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Journal articles on the topic 'Hearing loss Hearing loss Genetic predisposition to disease'

Author: Grafiati

Published: 4 June 2021

Last updated: 15 February 2022

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1

Baiduc, Rachael R., and Elizabeth P. Helzner. "Epidemiology of Diabetes and Hearing Loss." Seminars in Hearing 40, no. 04 (2019): 281–91. http://dx.doi.org/10.1055/s-0039-1697643.

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AbstractHearing loss is a highly prevalent chronic condition. In addition to age, sex, noise exposure, and genetic predisposition, cardiovascular disease and its antecedents may precipitate hearing loss. Of emerging interest is the connection between diabetes and auditory dysfunction. Cross-sectional studies consistently suggest that prevalence of hearing loss is higher in persons with diabetes compared with those without diabetes, especially among younger persons. Furthermore, longitudinal studies have demonstrated higher incidence of hearing loss in persons with diabetes compared to those wi

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2

Armakov, Sergey. "Causes and Types of Sensorineural Hearing Loss. Clinical Manifestations and Basic Principles of Treatment." Spravočnik vrača obŝej praktiki (Journal of Family Medicine), no. 9 (August 27, 2020): 9–16. http://dx.doi.org/10.33920/med-10-2009-01.

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Sensorineural hearing loss is a disorder associated with the damage to the inner ear structures: the cochlea (cortical organ), dysfunctioning of the vestibule-cochlear nerve or the central part of the auditory analyser (brain stem and cortical representation of the cortical temporal lobe). In recent years, there has been a steady increase in ensorineural hearing loss patients; they account for ca. 70% among the total patients with impaired hearing. The disease has numerous causes and a complex pathogenesis. Among the main factors contributing to hearing loss are genetic predisposition, perinat

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Perez-Carpena, Patricia, and Jose A. Lopez-Escamez. "Current Understanding and Clinical Management of Meniere's Disease: A Systematic Review." Seminars in Neurology 40, no. 01 (2019): 138–50. http://dx.doi.org/10.1055/s-0039-3402065.

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AbstractMeniere's disease (MD) is a set of uncommon disorders with core phenotype of tinnitus, episodic vertigo, and sensorineural hearing loss. MD shows a genetic predisposition and a family history is found in 10% cases, with an autosomal dominant inheritance pattern. It is a multifactorial condition whose onset and development are triggered by the combined effect of genetic and environmental factors. Histopathological studies have associated MD with the accumulation of endolymph in the cochlea and the vestibular organs. However, endolymphatic hydrops does not fully explain the persistence o

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Delmaghani, Sedigheh, and Aziz El-Amraoui. "Inner Ear Gene Therapies Take Off: Current Promises and Future Challenges." Journal of Clinical Medicine 9, no. 7 (2020): 2309. http://dx.doi.org/10.3390/jcm9072309.

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Hearing impairment is the most frequent sensory deficit in humans of all age groups, from children (1/500) to the elderly (more than 50% of the over-75 s). Over 50% of congenital deafness are hereditary in nature. The other major causes of deafness, which also may have genetic predisposition, are aging, acoustic trauma, ototoxic drugs such as aminoglycosides, and noise exposure. Over the last two decades, the study of inherited deafness forms and related animal models has been instrumental in deciphering the molecular, cellular, and physiological mechanisms of disease. However, there is still

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Yetiser, Sertac. "Review of the pathology underlying benign paroxysmal positional vertigo." Journal of International Medical Research 48, no. 4 (2019): 030006051989237. http://dx.doi.org/10.1177/0300060519892370.

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The pathophysiological mechanism underlying benign paroxysmal positional vertigo (BPPV) is related to free-floating debris/otoliths in the semicircular canal (canalolithiasis) or debris/otoliths attached to the cupula (cupulolithiasis). These debris/otoliths are considered to originally accumulate after detachment from the neuroepithelium of the utricular macula secondary to a type of degeneration. An idiopathic form, which is assumed to occur spontaneously, is diagnosed when the causative pathology is obscure. However, an association between various other systemic or inner ear conditions and

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Tsuiki, Takashi. "Streptomycin hearing loss and genetic predisposition to hearing loss of cochlear origin." AUDIOLOGY JAPAN 53, no. 6 (2010): 653–63. http://dx.doi.org/10.4295/audiology.53.653.

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7

Vrzalova, Zuzana, Katerina Stano Kozubik, Lenka Radova, Jakub Trizuljak, Sarka Pospisilova, and Michael Doubek. "Characterization of Pathogenic Variants Associated with Hereditary Thrombocytopenias in Families from the Czech Republic." Blood 134, Supplement_1 (2019): 2343. http://dx.doi.org/10.1182/blood-2019-122696.

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Introduction Inherited thrombocytopenias (IT) are a heterogeneous group of 33 different forms of monogenic disorders caused by molecular defects affecting 40 genes at least. The pathogenic germline variants play an important role in the development and maintenance of hematopoietic system (megakaryopoesis and thrombopoesis). These changes lead to disruption of these processes and are presented as the thrombocytopenia phenotype (low platelet count, blood-examination). However, patients are occasionally misdiagnosed with the immune thrombocytopenia and unsuccessfully treated with steroid therapy

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8

Jayarajan, V., M. A. Patton, and D. Rajenderkumar. "Genetic Predisposition and Sensorineural Hearing Loss following Bacterial Meningitis: Is there a Link?" Journal of Infection 44, no. 3 (2002): 210. http://dx.doi.org/10.1053/jinf.2002.0969.

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Catto, Luiz Fernando B., Gustavo Borges, André L. Pinto, et al. "Somatic genetic rescue in hematopoietic cells in GATA2 deficiency." Blood 136, no. 8 (2020): 1002–5. http://dx.doi.org/10.1182/blood.2020005538.

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Haploinsufficiency of GATA2 caused by heterozygous loss-of-function mutations is associated with cytopenias and predisposition to myelodysplasia and AML with other variable extrahematopoietic manifestions, including lymphedema, pulmonary alveolar proteinosis, and hearing loss. The authors report on 2 siblings with the disorder whose father was asymptomatic because of an acquired missense mutation in the affected allele that was restricted to hematopoietic cells; surprisingly, he also had no extrahematopoietic complications.

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Bashmakova, E. E., V. V. Krasitskaya, A. D. Yushkova, K. G. Dobrecov, and L. A. Frank. "To the question of genetic predisposition to the development of professional sensorineural hearing loss." Vestnik otorinolaringologii 86, no. 1 (2021): 15. http://dx.doi.org/10.17116/otorino20218601115.

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Szyfter, Krzysztof, Wojciech Gawęcki, and Witold Szyfter. "Genetic background of Meniere’s disease." Journal of Medical Science 87, no. 3 (2018): 158–61. http://dx.doi.org/10.20883/jms.2018.289.

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Meniere’s disease (MD) as an inner ear disorder including such symptoms as recurrent vertigo attacks, tinnitus, fluctuating or progressive sensorineural hearing loss. Its relatively frequent familial incidence implicates a genetic background. An autosomal dominant inheritance was commonly observed with a few exceptions. It was established that Meniere’s disease is not a monogenic disorder. Instead a group of genes of genomic and mitochondrial genes was established as determinants of hearing loss. Another group of genes was associated with inner ear (vestibulum, labyrinth, endolymph) alteration

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Božanić Urbančič, Nina, Saba Battelino, Tine Tesovnik, and Katarina Trebušak Podkrajšek. "The Importance of Early Genetic Diagnostics of Hearing Loss in Children." Medicina 56, no. 9 (2020): 471. http://dx.doi.org/10.3390/medicina56090471.

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Hearing loss is one of the most common sensory deficits. It carries severe medical and social consequences, and therefore, universal newborn hearing screening was introduced at the beginning of this century. Affected patients can have hearing loss as a solitary deficit (non-syndromic hearing loss) or have other organs affected as well (syndromic hearing loss). In around 60% of cases, congenital hearing loss has a genetic etiology, where disease-causing variants can change any component of the hearing pathway. Genetic testing is usually performed by sequencing. Sanger sequencing enables analysi

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Genovese, Elisabetta, Silvia Palma, Valeria Polizzi, et al. "Genetic and Non Genetic Hearing Loss and Associated Disabilities: An Epidemiological Survey in Emilia-Romagna Region." Audiology Research 11, no. 3 (2021): 463–73. http://dx.doi.org/10.3390/audiolres11030043.

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Hearing loss is one of the most common congenital sensory disorders. It can be associated with several comorbidities, in particular developmental disabilities (DD). In Emilia-Romagna (ER), a region in Northern Italy, Child and Adolescent Mental Health Services (CAMHS) provide the diagnostic framework and treatment for these conditions. The aim of the present study is to evaluate the prevalence of hearing loss, both isolated or in association with comorbidities, in the juvenile population. The study draws its data from the ER Childhood and Adolescent Neuropsychiatry Information System (SINPIAER

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Phillips, Susan L., Julie Shoemaker, Sandra T. Mace, and Donald A. Hodges. "Environmental Factors in Susceptibility to Noise-induced Hearing Loss in Student Musicians." Medical Problems of Performing Artists 23, no. 1 (2008): 20–28. http://dx.doi.org/10.21091/mppa.2008.1005.

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Hearing threshold and survey data collected over 3 years in a university school of music indicate that 52% of undergraduate music students show declines in high-frequency hearing at 6000 Hz consistent with acoustic overexposure. Declines at 4000 Hz have grown in number over the 3 years, from 2% the first year to 30% in the third year. These “noise notches” are seen in all instrument groups, including voice, and are seen more in the right ear than the left ear in all groups. Exposure to outside noise does not appear to be a determining factor in who develops these declines. It is concluded that

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Trebusak Podkrajsek, Katarina, Tine Tesovnik, Nina Bozanic Urbancic, and Saba Battelino. "Novel GRHL2 Gene Variant Associated with Hearing Loss: A Case Report and Review of the Literature." Genes 12, no. 4 (2021): 484. http://dx.doi.org/10.3390/genes12040484.

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In contrast to the recessive form, hearing loss inherited in a dominant manner is more often post-lingual and typically results in a progressive sensorineural hearing loss with variable severity and late onset. Variants in the GRHL2 gene are an extremely rare cause of dominantly inherited hearing loss. Genetic testing is a crucial part of the identification of the etiology of hearing loss in individual patients, especially when performed with next-generation sequencing, enabling simultaneous analysis of numerous genes, including those rarely associated with hearing loss. We aimed to evaluate t

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Brenowitz, Willa, Teresa Filshtein, Kristine Yaffe, et al. "Using Genetic Information to Explore Whether Preclinical Alzheimer’s Disease Affects Hearing Difficulty." Innovation in Aging 4, Supplement_1 (2020): 805. http://dx.doi.org/10.1093/geroni/igaa057.2922.

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Abstract Underlying AD-related neurodegeneration or shared risk factors may influence hearing loss; in an innovative approach we tested whether genetic risk for AD also influences functional hearing loss. We studied 401,084 UK Biobank participants aged 40-70, with Caucasian genetic ancestry, and enrolled 2007-2010. Participants self-reported hearing difficulty and were followed for AD diagnosis until 2018. A genetic risk score for AD (AD-GRS) was calculated as a weighted sum of 23 AD risk variants. In age-, sex-, and genetic ancestry- adjusted models higher AD-GRS was associated with problem h

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Choi, Jin Woong. "Inner Ear Gene Therapy in Mouse Models of Genetic Hearing Loss." Korean Journal of Otorhinolaryngology-Head and Neck Surgery 64, no. 4 (2021): 215–22. http://dx.doi.org/10.3342/kjorl-hns.2020.00836.

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Hearing loss is the most frequent sensory disorder affecting newborns and children. About 1 newborn in every 500 suffer from congenital hearing loss, with approximately half of these having a genetic cause. In the last few decades, the study of genetic hearing loss and related mouse models has unveiled molecular, cellular, and physiological mechanisms of the disease. In addition, effective and safe viral vectors for gene delivery to the inner ear have been generated. A growing number of approaches, including gene replacement, gene silencing, and gene editing, have proved effective in mouse mod

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Hiraki, N., T. Udaka, H. Yamamoto, Y. Kadokawa, J. Ohkubo, and H. Suzuki. "Mitochondrial neurogastrointestinal encephalomyopathy associated with progressive hearing loss." Journal of Laryngology & Otology 124, no. 9 (2010): 1007–9. http://dx.doi.org/10.1017/s0022215110001477.

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AbstractObjective:We report a rare case of mitochondrial neurogastrointestinal encephalomyopathy with hearing loss.Case report:A 46-year-old woman presented with a three-year history of progressive, bilateral hearing loss and tinnitus. She had been suffering from unexplained abdominal pain and diarrhoea for 20 years. When first seen, her otoscopic findings were normal, and pure tone audiometry showed mild and moderate hearing loss in her right and left ears, respectively. She also had: bilateral ophthalmoparesis, neck and limb muscle weakness, and hypoactive deep tendon reflexes on neurologica

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Kunstmann, E., A. Eickelmann, H. Sudhoff, M. Pearson, and D. Brors. "Sudden hearing loss due to fibromuscular dysplasia." Journal of Laryngology & Otology 123, no. 3 (2008): 359–62. http://dx.doi.org/10.1017/s0022215108003836.

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AbstractObjective:This case is reported in order to demonstrate the importance of detailed clinical analysis, including evaluation of personal and family history, in the differential diagnosis of sudden sensorineural hearing loss.Case report:A 50-year-old woman presented with a sudden onset of sensorineural hearing loss in her right ear. She had experienced three previous episodes of sudden sensorineural hearing loss in her left ear, at the ages of 35, 48 and 50 years. She also reported suffering two strokes with left hemiparesis due to fibromuscular dysplasia of her right internal carotid art

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Yuan, Yongyi, Qi Li, Yu Su, et al. "Comprehensive genetic testing of Chinese SNHL patients and variants interpretation using ACMG guidelines and ethnically matched normal controls." European Journal of Human Genetics 28, no. 2 (2019): 231–43. http://dx.doi.org/10.1038/s41431-019-0510-6.

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Abstract Hereditary hearing loss is a monogenic disease with high genetic heterogeneity. Variants in more than 100 deafness genes underlie the basis of its pathogenesis. The aim of this study was to assess the ratio of SNVs in known deafness genes contributing to the etiology of both sporadic and familial sensorineural hearing loss patients from China. DNA samples from 1127 individuals, including normal hearing controls (n = 616), sporadic SNHL patients (n = 433), and deaf individuals (n = 78) from 30 hearing loss pedigrees were collected. The NGS tests included analysis of sequence alteration

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Um, Jae-Young, Chul-Ho Jang, Kyu-Yeob Kim, et al. "Candidate Genes of Cerebrovascular Disease and Sudden Sensorineural Hearing Loss." Clinical and Applied Thrombosis/Hemostasis 16, no. 5 (2009): 559–62. http://dx.doi.org/10.1177/1076029609348313.

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Auditory dysfunction is related to large/small vessel occlusions and hemorrhage. Sudden sensorineural hearing loss (SSNHL) frequently occurs with anterior inferior cerebellar artery occlusion proximal to the internal auditory artery. Moreover, SSNHL has various pathogenetic mechanisms, the main proposed mechanisms being vascular disease, membrane ruptures, infection, and autoimmunity. Tumor necrosis factor (TNF) is an important cytokine in the inflammation process of cerebrovascular diseases. In the current study, the possible effects of polymorphisms in TNF-α and TNF-β genes on SSNHL are eval

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., Priyanka, Shiffali ., Manpreet Singh, and Jagdeepak Singh. "Hearing assessment in a rare case of Hajdu Cheney syndrome." International Journal of Otorhinolaryngology and Head and Neck Surgery 3, no. 4 (2017): 1140. http://dx.doi.org/10.18203/issn.2454-5929.ijohns20174352.

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<p class="abstract"><span lang="EN-IN">Hajdu Cheney syndrome is extremely rare autosomal dominant congenital disorder of connective tissue. It may occur due to spontaneous de novo mutation and mutation in NOTCH-2 gene identified recently. Most characteristic features include aero-osteolysis involving phalanges of both hands and feet, osteoporosis, deformities of skull, mandible, spine and other bones, kyphoscoliosis and bone fractures. Rarely in some affected individuals, it causes joint hypermobility, dental problems, hearing loss, heart defects, kidney abnormality like polycystic

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Puga, Ana, María Pajares, Gregorio Varela-Moreiras, and Teresa Partearroyo. "Interplay between Nutrition and Hearing Loss: State of Art." Nutrients 11, no. 1 (2018): 35. http://dx.doi.org/10.3390/nu11010035.

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Hearing loss has been recently ranked as the fifth leading cause of years lived with disability, ahead of many other chronic diseases such as diabetes, dementia, or chronic obstructive pulmonary disease. Moreover, according to the World Health Organization, moderate-to-profound hearing loss affects about 466 million people worldwide. Its incidence varies in each population segment, affecting approximately 10% of children and increasing to 30% of the population over 65 years. However, hearing loss receives still very limited research funding and public awareness. This sensory impairment is caus

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Gao, Xue, Jin-Cao Xu, Wei-Qian Wang, et al. "A Missense Mutation in POU4F3 Causes Midfrequency Hearing Loss in a Chinese ADNSHL Family." BioMed Research International 2018 (2018): 1–7. http://dx.doi.org/10.1155/2018/5370802.

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Hereditary nonsyndromic hearing loss is extremely heterogeneous. Mutations in the POU class 4 transcription factor 3 (POU4F3) are known to cause autosomal dominant nonsyndromic hearing loss linked to the loci of DFNA15. In this study, we describe a pathogenic missense mutation in POU4F3 in a four-generation Chinese family (6126) with midfrequency, progressive, and postlingual autosomal dominant nonsyndromic hearing loss (ADNSHL). By combining targeted capture of 129 known deafness genes, next-generation sequencing, and bioinformatic analysis, we identified POU4F3 c.602T>C (p.Leu201Pro) as t

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Wang, Jing, and Jean-Luc Puel. "Presbycusis: An Update on Cochlear Mechanisms and Therapies." Journal of Clinical Medicine 9, no. 1 (2020): 218. http://dx.doi.org/10.3390/jcm9010218.

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Age-related hearing impairment (ARHI), also referred to as presbycusis, is the most common sensory impairment seen in the elderly. As our cochlea, the peripheral organ of hearing, ages, we tend to experience a decline in hearing and are at greater risk of cochlear sensory-neural cell degeneration and exacerbated age-related hearing impairments, e.g., gradual hearing loss, deterioration in speech comprehension (especially in noisy environments), difficulty in the localization sound sources, and ringing sensations in the ears. However, the aging process does not affect people uniformly; nor, in

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Halpin, Chris, Barbara Herrmann, and Margaret Whearty. "A Family With Autosomal-Dominant Progressive Sensorineural Hearing Loss." American Journal of Audiology 5, no. 1 (1996): 23–32. http://dx.doi.org/10.1044/1059-0889.0501.23.

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The family described in this article provides an unusual opportunity to relate findings from genetic, histological, electrophysiological, psychophysical, and rehabilitative investigation. Although the total number evaluated is large (49), the known, living affected population is smaller (14), and these are spread from age 20 to age 59. As a result, the findings described above are those of a large-scale case study. Clearly, more data will be available through longitudinal study of the individuals documented in the course of this investigation but, given the slow nature of the progression in th

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Brenowitz, Willa D., Teresa J. Filshtein, Kristine Yaffe, et al. "Association of genetic risk for Alzheimer disease and hearing impairment." Neurology 95, no. 16 (2020): e2225-e2234. http://dx.doi.org/10.1212/wnl.0000000000010709.

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ObjectiveTo test the hypothesis that incipient Alzheimer disease (AD) may adversely affect hearing and that hearing loss may adversely affect cognition, we evaluated whether genetic variants that increase AD risk also increase problem hearing and genetic variants that increase hearing impairment risk do not influence cognition.MethodsUK Biobank participants without dementia ≥56 years of age with Caucasian genetic ancestry completed a Digit Triplets Test of speech-in-noise hearing (n = 80,074), self-reported problem hearing and hearing with background noise (n = 244,915), and completed brief co

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Schweitzer, Vanessa G., Ilaaf Darrat, Brad A. Stach, and Elizabeth Gray. "Sudden Bilateral Sensorineural Hearing Loss following Polysubstance Narcotic Overdose." Journal of the American Academy of Audiology 22, no. 04 (2011): 208–14. http://dx.doi.org/10.3766/jaaa.22.4.3.

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Background: Auditory disorders associated with substance abuse are rare. Hearing loss secondary to heroin and hydrocodone abuse has been described variously as not always responsive to steroid management, as not always reversible, and in some cases, as nonresponsive profound sensorineural hearing loss requiring cochlear implantation. We present a case of a teenager with sudden-onset moderate to severe bilateral sensorineural hearing loss after documented polysubstance “binging.” The hearing loss improved substantially after high-dose steroid and vasoactive therapy. Purpose: The purpose of this

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Halpin, Chris. "New Methods in the Molecular Genetic Study and Treatment of Hearing Loss." American Journal of Audiology 5, no. 1 (1996): 83–89. http://dx.doi.org/10.1044/1059-0889.0501.83.

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In genetics, both discovery and methodology are advancing at an accelerating rate. As a result, the role of clinicians, and in this case clinical audiologists, must be re-examined from time to time to assure the sort of cooperation that will maximize results for both the investigators and the patients. This article will briefly review the current state of molecular genetic methodology and relate the assumptions inherent in such methods to the character of the clinical data needed from the audiologist inthese cases. The basic assumption of most molecular biologic investigations of ear disease i

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Joshua, B., D. M. Kaplan, E. Raveh, D. Lotan, and Y. Anikster. "Audiometric and imaging characteristics of distal renal tubular acidosis and deafness." Journal of Laryngology & Otology 122, no. 2 (2007): 193–98. http://dx.doi.org/10.1017/s0022215107009747.

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AbstractObjective:Primary distal renal tubular acidosis with sensorineural hearing loss is a rare autosomal recessive disease, usually caused by mutations in the ATP6V1B1 gene. The aim of this study was to characterise the phenotype of this disease, with emphasis on the auditory findings, in a cohort of Israeli children.Study design:Prospective study of five children, from three unrelated families, with distal renal tubular acidosis and bilateral sensorineural hearing loss, with mutations in the ATP6V1B1 gene.Methods:The following were collected from patients' medical records: biochemical and

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Gangopadhyay, Prasenjit, and Bipin Kishore Prasad. "A Study of Aetiological Profile of Unilateral Sensorineural Hearing Loss." Bengal Journal of Otolaryngology and Head Neck Surgery 27, no. 1 (2019): 19–28. http://dx.doi.org/10.47210/bjohns.2019.v27i1.221.

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Introduction: It is necessary to identify the aetiology of sudden sensorineural hearing loss for proper management. Despite advancement in the field of diagnostic radiology, immunochemistry and genetic studies, there are still many cases of USNHL where a definite cause cannot be identified. In this study, an attempt has been made to identify the aetiological factors responsible for unilateral sensorineural hearing loss (USNHL)..  Materials and Methods: Seventyfive patients with acquired unilateral sensorineural hearing loss without chronic otitis media were included in the study. Hearing

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Petrova, Nika V., Andrey V. Marakhonov, Natalia V. Balinova, et al. "Genetic Variant c.245A>G (p.Asn82Ser) in GIPC3 Gene Is a Frequent Cause of Hereditary Nonsyndromic Sensorineural Hearing Loss in Chuvash Population." Genes 12, no. 6 (2021): 820. http://dx.doi.org/10.3390/genes12060820.

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Hereditary nonsyndromic sensorineural hearing loss is a disease in which hearing loss occurs due to damage to the organ of the inner ear, the auditory nerve, or the center in the brain that is responsible for the perception of sound, characterized by wide locus and allelic heterogeneity and different types of inheritance. Given the diversity of population of the Russian Federation, it seems necessary to study the ethnic characteristics of the molecular causes of the disease. The aim is to study the molecular and genetic causes of hereditary sensorineural hearing loss in Chuvash, the fifth larg

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Benneh, Amma A., Edeghonghon Olayemi, Kenneth Baidoo, and David Nana Adjei. "Parameters That Contribute to Hearing Loss in Cml Patients." Blood 120, no. 21 (2012): 4455. http://dx.doi.org/10.1182/blood.v120.21.4455.4455.

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Abstract Abstract 4455 Background: Chronic Myeloid leukaemia (CML) is a clonal disease that results from an acquired genetic change in a pluripotential haemopoietic stem cell. Hearing loss is a rare complication of CML. The most probable cause of the hearing loss in CML has been attributed to hyperleukostasis rather than leukaemic infiltration as seen in other leukaemias. This supported by the fact that hearing loss can be reversed in some patients if leukapheresis is done early. Patients and Methods: This retrospective study was conducted at the Korle-Bu Teaching Hospital, Accra, Ghana. Study

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Yusuf, Dimas, Cian O’Kelly, and Jacob C. Easaw. "62 Improvement of hearing with bevacizumab in a patient with neurofibromatosis type 2 and bilateral acoustic schwannomas." Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques 45, S3 (2018): S11. http://dx.doi.org/10.1017/cjn.2018.310.

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BACKGROUND: Neurofibromatosis type 2 (NF2) is a rare genetic condition caused by mutations in the Merlin gene on chromosome 22. It results in acoustic neuromas (schwannomas) and other CNS tumors including meningiomas and ependymomas. Most patients develop hearing loss as a result of neuroma-driven destruction of auditory nerves. Surgery and radiation therapy remain the two most commonly recommended treatment options. However, there is a risk of further hearing loss with these procedures. There is emerging evidence that bevacizumab, a monoclonal antibody against VEGF-A, can shrink acoustic neur

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Eisenhut, Michael. "Evidence Supporting the Hypothesis That Inflammation-Induced Vasospasm Is Involved in the Pathogenesis of Acquired Sensorineural Hearing Loss." International Journal of Otolaryngology 2019 (November 6, 2019): 1–15. http://dx.doi.org/10.1155/2019/4367240.

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Sensorineural hearing loss is mainly acquired and affects an estimated 1.3 billion humans worldwide. It is related to aging, noise, infection, ototoxic drugs, and genetic defects. It is essential to identify reversible and preventable causes to be able to reduce the burden of this disease. Inflammation is involved in most causes and leads to tissue injury through vasospasm-associated ischemia. Vasospasm is reversible. This review summarized evidence linking inflammation-induced vasospasm to several forms of acquired sensorineural hearing loss. The link between vasospasm and sensorineural heari

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Zhang, Fengguo, Lei Xu, Yun Xiao, Jianfeng Li, Xiaohui Bai, and Haibo Wang. "Three MYO15A Mutations Identified in One Chinese Family with Autosomal Recessive Nonsyndromic Hearing Loss." Neural Plasticity 2018 (2018): 1–8. http://dx.doi.org/10.1155/2018/5898025.

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Hearing impairment is one of the most common sensory disease, of which more than 50% is attributed to a genetic etiology. The goal of this research is to explore the genetic cause of a Chinese deafness pedigree who was excluded of GJB2, SLC26A4, or MtDNA12SrRNA variants. Three variants, c.3971C>A (p.A1324D), c.4011insA (p.Q1337Qfs∗22), and c.9690+1G>A, in the MYO15A gene were identified by targeted capture sequencing and Sanger sequencing, and the first two of them were novel. These variants were cosegregated with the disease in this family and absent in 200 normal hearing persons. They

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Thonnard, Joëlle, Marianne Philippe, Ming-Yu Cao, et al. "HLA Class II-Associated Genetic Susceptibility in Idiopathic Progressive Sensorineural Hearing Loss." Annals of Otology, Rhinology & Laryngology 105, no. 8 (1996): 628–33. http://dx.doi.org/10.1177/000348949610500808.

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To investigate the association between genes in the major histocompatibility complex and inner ear disease susceptibility at the DNA level, high-resolution genotyping for HLA class II (HLA-DR, -DQ, -DP) was performed by polymerase chain reaction-sequence-specific oligonucleotide reverse dot blot and polymerase chain reaction-restriction fragment length polymorphism analysis in 34 patients with idiopathic progressive sensorineural hearing loss (PSHL) and in 214 controls. The frequencies of DRB1*0301, DRB3*0101, DQB1*0201, and DPB1*0401 were significantly increased in patients with idiopathic PS

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Romasko, Edward J., Sawona Biswas, Batsal Devkota, et al. "Utility of Whole Exome Sequencing in Diagnosis of Pediatric Platelet Disorders: A Subanalysis of the Pediseq Study." Blood 128, no. 22 (2016): 3726. http://dx.doi.org/10.1182/blood.v128.22.3726.3726.

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Abstract Background: Inherited Platelet Disorders (IPD) are individually rare disorders that have many different molecular causes. Diagnosis of IPD is often complicated by the need for complex testing that is not readily available at many centers and the lack of available testing to define the molecular cause of some disorders. While some platelet disorders are sufficiently defined by functional characterization, recent data suggests that some platelet disorders may predispose to significant other complications including cancer predisposition, myelofibrosis or hearing loss. Therefore, it may b

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Zhang, Chuan, Shengju Hao, Yali Liu, et al. "A novel LOXHD1 variant in a Chinese couple with hearing loss." Journal of International Medical Research 47, no. 12 (2019): 6082–90. http://dx.doi.org/10.1177/0300060519884197.

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Objective To perform molecular diagnosis and genetic counseling in a young Chinese couple with congenital hearing loss. Methods Variant screening analysis was performed by PCR and direct Sanger sequencing or targeted next-generation sequencing of all known hearing loss genes. Novel variants were evaluated by PolyPhen2 and PROVEAN software tools to evaluate possible effects on protein function. Results We identified causative variants in the young couple: c.235delC (rs80338943)/c.299-300delAT (rs111033204) compound heterozygous variants of GJB2 in the husband and c.1828G>A (p.Glu610Lys, rs53

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Jones, Sherri M., and Timothy A. Jones. "Genetics of Peripheral Vestibular Dysfunction: Lessons from Mutant Mouse Strains." Journal of the American Academy of Audiology 25, no. 03 (2014): 289–301. http://dx.doi.org/10.3766/jaaa.25.3.8.

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Background: A considerable amount of research has been published about genetic hearing impairment. Fifty to sixty percent of hearing loss is thought to have a genetic cause. Genes may also play a significant role in acquired hearing loss due to aging, noise exposure, or ototoxic medications. Between 1995 and 2012, over 100 causative genes have been identified for syndromic and nonsyndromic forms of hereditary hearing loss. Mouse models have been extremely valuable in facilitating the discovery of hearing loss genes and in understanding inner ear pathology due to genetic mutations or elucidatin

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Udagatti, Vithal D., Rajendran Dinesh Kumar, Arjunsing Vijaysing Samorekar, and Vaibhavi KR. "Role of Free Radicals, Glutamate Toxicity, Glutathione Depletion in Apoptosis of Cochlear Hair Cells, Neuronal Cells among Patients with Sensorineural Hearing Loss." Annals of Otology and Neurotology 3, no. 02 (2020): 047–56. http://dx.doi.org/10.1055/s-0041-1724220.

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Abstract Introduction Hearing loss may lead to depression, decreased quality of life, reduced functional status and social isolation. The glutathione-S transferase (GSTS) is an antioxidant scavenging enzyme. Decreased glutathione and GSTS activity levels lead to an increase in susceptibility of hair-cell damage leading to sensorineural hearing loss. The cumulative effect of oxidative stress and mitochondrial damage by free radicals results in the mutation/deletion of deoxyribonucleic acid, leading to decline in mitochondrial function, which in turn plays an important role in inducing apoptosis

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Makretskaya, Nina A., Olga B. Bezlepkina, Olga A. Chikulaeva, et al. "A case of congenital hypothyroidism combined with sensorineural hearing loss (Pendred syndrome) caused by a TPO gene defect." Problems of Endocrinology 63, no. 2 (2017): 110–13. http://dx.doi.org/10.14341/probl2017632110-113.

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Congenital hypothyroidism is a genetically heterogeneous group of diseases caused by two mechanisms: gland dysgenesis and dyshormonogenesis. The disease pattern includes a number of syndromic forms, one of which is a combination of congenital hypothyroidism and sensorineural hearing loss (Pendred syndrome) initially associated with SLC26A4 gene defects. The article describes a patient with clinical manifestations of Pendred syndrome who was diagnosed with a TPO gene defect during a molecular genetic analysis using next generation sequencing (NGS). Therefore, a combination of congenital hypothy

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Mercer, Danielle, Annette Hurley, and Fern Tsien. "Detailed Audiological Evaluation of a Patient with Xeroderma Pigmentosum with Neural Degeneration." Journal of the American Academy of Audiology 28, no. 01 (2017): 080–90. http://dx.doi.org/10.3766/jaaa.15112.

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AbstractXeroderma pigmentosum (XP) is a rare autosomal recessive condition characterized by extreme sensitivity to ultraviolet light. Individuals with XP lack the ability to repair DNA (deoxyribonucleic acid) damage caused by ultraviolet radiation, leading to sunburn and increased susceptibility to skin cancers. Approximately 25% of patients also exhibit neural degeneration, which includes progressive mental deterioration, cortical thinning, and sensorineural hearing loss.Herein, we describe the audiological and genetic findings in a patient with XP subtype D with neural degeneration and heari

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Alves, Daniela, Maria Eufémia Calmeiro, Carmo Macário, and Rosa Silva. "Family Phenotypic Heterogeneity Caused by Mitochondrial DNA Mutation A3243G." Acta Médica Portuguesa 30, no. 7-8 (2017): 581. http://dx.doi.org/10.20344/amp.8638.

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Maternally inherited diabetes and deafness is a rare form of diabetes caused by a mitochondrial DNA mutation. The index case is a 55-year-old woman who was admitted with hypertrophic cardiomyopathy. She had a history of diabetes mellitus and hearing loss. The patient’s mother, two brothers and two sisters also had a history of diabetes and hearing loss. This pattern suggests a maternally inherited disorder. All siblings carried the A3243G mitochondrial DNA mutation. The identification of people with monogenic forms of diabetes mellitus is a diagnostic challenge. This condition should be consid

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Medoro, Alexandra K., Cory T. Hanlon, Traci Pifer, et al. "1143. Late-Onset Hearing Loss and Antiviral Therapy for Congenital Cytomegalovirus Infection." Open Forum Infectious Diseases 7, Supplement_1 (2020): S599. http://dx.doi.org/10.1093/ofid/ofaa439.1329.

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Abstract Background Congenital cytomegalovirus (CMV) is the leading non-genetic cause of sensorineural hearing loss (SNHL) in children. While SNHL is often present at birth, as many as 25% of congenital CMV-infected infants may develop late-onset hearing loss. Antiviral therapy improves hearing outcomes, but its effect on the occurrence of late-onset SNHL is not fully known. Thus, our objective was to describe the prevalence of late-onset SNHL among congenital CMV-infected children treated with antiviral therapy in the first month of age. Methods From 2013 to present, infants with congenital C

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Labat-de-Hoz, Leticia, and Miguel A. Alonso. "Formins in Human Disease." Cells 10, no. 10 (2021): 2554. http://dx.doi.org/10.3390/cells10102554.

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Almost 25 years have passed since a mutation of a formin gene, DIAPH1, was identified as being responsible for a human inherited disorder: a form of sensorineural hearing loss. Since then, our knowledge of the links between formins and disease has deepened considerably. Mutations of DIAPH1 and six other formin genes (DAAM2, DIAPH2, DIAPH3, FMN2, INF2 and FHOD3) have been identified as the genetic cause of a variety of inherited human disorders, including intellectual disability, renal disease, peripheral neuropathy, thrombocytopenia, primary ovarian insufficiency, hearing loss and cardiomyopat

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Xing, Guangqian, Jun Yao, Chunyu Liu, et al. "GPRASP2, a novel causative gene mutated in an X-linked recessive syndromic hearing loss." Journal of Medical Genetics 54, no. 6 (2017): 426–30. http://dx.doi.org/10.1136/jmedgenet-2016-104320.

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BackgroundA substantial amount of nuclear genes have been identified to be implicated in genetic hearing loss, while X-linked hearing loss is genetically heterogeneous and relatively infrequent.ObjectiveTo identify the causative gene mutation in a five-generation Chinese family with an X-linked recessive syndromic hearing loss (SHL).MethodsTargeted X-chromosome exome sequencing was conducted, and cosegregation analysis was performed in the members of the affected family. The in silico and expression studies were also performed.ResultsA 2-bp missense mutation (c.1717_1718GC>AA, p.A573N) in t

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Noman, Muhammad, Rafaqat Ishaq, Shazia A. Bukhari, Zubair M. Ahmed, and Saima Riazuddin. "Delineation of Homozygous Variants Associated with Prelingual Sensorineural Hearing Loss in Pakistani Families." Genes 10, no. 12 (2019): 1031. http://dx.doi.org/10.3390/genes10121031.

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Hearing loss is a genetically heterogeneous disorder affecting approximately 360 million people worldwide and is among the most common sensorineural disorders. Here, we report a genetic analysis of seven large consanguineous families segregating prelingual sensorineural hearing loss. Whole-exome sequencing (WES) revealed seven different pathogenic variants segregating with hearing loss in these families, three novel variants (c.1204G>A, c.322G>T, and c.5587C>T) in TMPRSS3, ESRRB, and OTOF, and four previously reported variants (c.208C>T, c.6371G>A, c.226G>A, and c.494C>T)

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Millán, José M., Elena Aller, Teresa Jaijo, Fiona Blanco-Kelly, Ascensión Gimenez-Pardo, and Carmen Ayuso. "An Update on the Genetics of Usher Syndrome." Journal of Ophthalmology 2011 (2011): 1–8. http://dx.doi.org/10.1155/2011/417217.

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Usher syndrome (USH) is an autosomal recessive disease characterized by hearing loss, retinitis pigmentosa (RP), and, in some cases, vestibular dysfunction. It is clinically and genetically heterogeneous and is the most common cause underlying deafness and blindness of genetic origin. Clinically, USH is divided into three types. Usher type I (USH1) is the most severe form and is characterized by severe to profound congenital deafness, vestibular areflexia, and prepubertal onset of progressive RP. Type II (USH2) displays moderate to severe hearing loss, absence of vestibular dysfunction, and la

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Tabatabaiefar, Mohammad Amin, Mohammad Reza Pourreza, Parisa Tahmasebi, et al. "A Novel Pathologic Variant in OTOF in an Iranian Family Segregating Hereditary Hearing Loss." Otolaryngology–Head and Neck Surgery 158, no. 6 (2018): 1084–92. http://dx.doi.org/10.1177/0194599818759007.

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Objective Hearing loss (HL) is the most common sensory-neural defect and the most heterogeneous trait in humans, with the involvement of >100 genes, which make a molecular diagnosis problematic. Next-generation sequencing (NGS) is a new strategy that can overcome this problem. Study Design Descriptive experimental study. Setting Diagnostic laboratory. Subjects and Methods A comprehensive family history was obtained, and clinical evaluations and pedigree analysis were performed in a family with multiple individuals with HL. As the first tier, GJB2 was sequenced, and genetic linkage analysis

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