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Articles de revues sur le sujet « Deafness: genetics. Diabetes. Dövhet »

Auteur : Grafiati

Publié le 4 juin 2021

Mis à jour le 4 février 2022

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1

Friedman, E., A. Blau, and Z. Farfel. "A variant of the “DIDMOAD” syndrome: (Diabetes Insipidus, Diabetes Mellitus, Optic Atrophy and Deafness)." Clinical Genetics 29, no. 1 (2008): 79–82. http://dx.doi.org/10.1111/j.1399-0004.1986.tb00774.x.

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Sousa, Madalena, and Jácome Bruges-Armas. "Monogenic Diabetes: Genetics and Relevance on Diabetes Mellitus Personalized Medicine." Current Diabetes Reviews 16, no. 8 (2020): 807–19. http://dx.doi.org/10.2174/1573399816666191230114352.

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Background: Diabetes mellitus (DM) is a complex disease with significant impression in today's world. Aside from the most common types recognized over the years, such as type 1 diabetes (T1DM) and type 2 diabetes (T2DM), recent studies have emphasized the crucial role of genetics in DM, allowing the distinction of monogenic diabetes. Methods: Authors did a literature search with the purpose of highlighting and clarifying the subtypes of monogenic diabetes, as well as the accredited genetic entities responsible for such phenotypes. Results: The following subtypes were included in this literatur

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Robberecht, Kirsten, Christian Decock, Annemie Stevens, Sara Seneca, Jan De Bleecker, and Bart P. Leroy. "Ptosis as an associated finding in maternally inherited diabetes and deafness." Ophthalmic Genetics 31, no. 4 (2010): 240–43. http://dx.doi.org/10.3109/13816810.2010.520297.

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Blackett, Piers R., Shibo Li, and John J. Mulvihill. "Ring chromosome 4 in a patient with early onset type 2 diabetes, deafness, and developmental delay." American Journal of Medical Genetics Part A 137A, no. 2 (2005): 213–16. http://dx.doi.org/10.1002/ajmg.a.20386.

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Olsson, Charlotta, Björn Zethelius, Maria Lagerström-Fermér, Johan Asplund, Christian Berne, and Ulf Landegren. "Level of heteroplasmy for the mitochondrial mutation A3243G correlates with age at onset of diabetes and deafness." Human Mutation 12, no. 1 (1998): 52–58. http://dx.doi.org/10.1002/(sici)1098-1004(1998)12:1<52::aid-humu8>3.0.co;2-k.

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Souied, Eric, Babak Mashhour, Xavier Morel, et al. "Retinal branch vein occlusion associated with macular dystrophy, maternally inherited diabetes, and deafness." Ophthalmic Genetics 18, no. 3 (1997): 157–60. http://dx.doi.org/10.3109/13816819709057130.

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Olsson, Charlotta, Elsy Johnsen, Mats Nilsson, Erik Wilander, Ann-Christine Syvänen, and Maria Lagerström-Fermér. "The level of the mitochondrial mutation A3243G decreases upon ageing in epithelial cells from individuals with diabetes and deafness." European Journal of Human Genetics 9, no. 12 (2001): 917–21. http://dx.doi.org/10.1038/sj.ejhg.5200742.

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R�tig, A., V. Cormier, P. Chatelain, et al. "Deletion of mitochondrial DNA in a case of early-onset diabetes mellitus, optic atrophy and deafness (DIDMOAD, Wolfram syndrome)." Journal of Inherited Metabolic Disease 16, no. 3 (1993): 527–30. http://dx.doi.org/10.1007/bf00711672.

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SAKAUE, SHINJI, JUNKO OHMURO, TAKAYUKI MISHINA, et al. "A Case of Diabetes, Deafness, Cardiomyopathy, and Central Sleep Apnea: Novel Mitochondrial DNA Polymorphisms." Tohoku Journal of Experimental Medicine 196, no. 3 (2002): 203–11. http://dx.doi.org/10.1620/tjem.196.203.

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Syriga, Maria, Vasileios Soumplis, Charalampos Kapernopoulos, Dimitris Kleftogiannis, and Michael Karampelas. "Outer retinal tubulations in maternally inherited diabetes & deafness – associated macular dystrophy: case report." Ophthalmic Genetics 41, no. 6 (2020): 606–11. http://dx.doi.org/10.1080/13816810.2020.1799418.

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Boor, R., J. Herwig, J. Schrezenmeir, B. F. Pontz, and W. Schönberger. "Familial insulin resistant diabetes associated with acanthosis nigricans, polycystic ovaries, hypogonadism, pigmentary retinopathy, labyrinthine deafness, and mental retardation." American Journal of Medical Genetics 45, no. 5 (1993): 649–53. http://dx.doi.org/10.1002/ajmg.1320450526.

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Feigenbaum, Annette, Catherine Bergeron, Robert Richardson, John Wherrett, Brian Robinson, and Rosanna Weksberg. "Premature atherosclerosis with photomyoclonic epilepsy, deafness, diabetes mellitus, nephropathy, and neurodegenerative disorder in two brothers: A new syndrome?" American Journal of Medical Genetics 49, no. 1 (1994): 118–24. http://dx.doi.org/10.1002/ajmg.1320490124.

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Shadel, G. "A dual-function mitochondrial transcription factor tunes out deafness." Molecular Genetics and Metabolism 82, no. 1 (2004): 1–3. http://dx.doi.org/10.1016/j.ymgme.2004.02.003.

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Al-Semari, Abdulaziz, and Saeed Bohlega. "Autosomal-recessive syndrome with alopecia, hypogonadism, progressive extra-pyramidal disorder, white matter disease, sensory neural deafness, diabetes mellitus, and low IGF1." American Journal of Medical Genetics Part A 143A, no. 2 (2007): 149–60. http://dx.doi.org/10.1002/ajmg.a.31497.

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Toppings, N. B., J. M. McMillan, P. Y. B. Au, O. Suchowersky, and L. E. Donovan. "Wolfram Syndrome: A Case Report and Review of Clinical Manifestations, Genetics Pathophysiology, and Potential Therapies." Case Reports in Endocrinology 2018 (2018): 1–8. http://dx.doi.org/10.1155/2018/9412676.

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Background.Classical Wolfram syndrome (WS) is a rare autosomal recessive disorder caused by mutations inWFS1,a gene implicated in endoplasmic reticulum (ER) and mitochondrial function. WS is characterized by insulin-requiring diabetes mellitus and optic atrophy. A constellation of other features contributes to the acronym DIDMOAD (Diabetes Insipidus, Diabetes Mellitus, Optic Atrophy, and Deafness). This review seeks to raise awareness of this rare form of diabetes so that individuals with WS are identified and provided with appropriate care.Case.We describe a woman without risk factors for ges

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Andrew Symons, R. C., Rustamzhon Turakulov, Simon J. Foote, Jamie E. Craig, Paul J. McCartney, and David A. Mackey. "No Maternally Inherited Diabetes and Deafness Mutations in a Sample of 193 Tasmanian Diabetics with Glaucoma." Ophthalmic Genetics 28, no. 1 (2007): 39–41. http://dx.doi.org/10.1080/13816810701201971.

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Dandurand, Karel, Dalal Ali, Susan Tran, Tina Zhou, and Aliya Aziz Khan. "Delayed Diagnosis of Congenital Hypoparathyroidism in a Kindred of Three Patients With Autosomal Dominant Deafness." Journal of the Endocrine Society 5, Supplement_1 (2021): A189. http://dx.doi.org/10.1210/jendso/bvab048.383.

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Abstract Background: Congenital hypoparathyroidism can be related to autosomal dominant mutations or deletions in GATA-binding protein 3 gene on chromosome 101,2. Affected patients present with a triad of hypoparathyroidism, renal dysplasia and neurosensorial deafness. We hereby present the case of a patient with the rare Barakat syndrome, also known as HDR syndrome. Clinical Case: A 11-year-old girl, diagnosed with deafness at birth, was brought to medical attention because of menorrhagia requiring blood transfusions two months after menarche. A pelvic ultrasound demonstrated a septate uterus

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Chen, F. L., Y. Liu, X. Y. Song, et al. "A novel mitochondrial DNA missense mutation at G3421A in a family with maternally inherited diabetes and deafness." Mutation Research/Fundamental and Molecular Mechanisms of Mutagenesis 602, no. 1-2 (2006): 26–33. http://dx.doi.org/10.1016/j.mrfmmm.2006.07.006.

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Dilliraj, Gayathri, and K. Sumathi. "Significance of serum magnesium levels in the auditory status of type II diabetes mellitus patients." Biomedicine 39, no. 2 (2020): 239–43. http://dx.doi.org/10.51248/.v39i2.187.

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Introduction and Aim: Diabetes mellitus is one of the commonest metabolic causes associated with hypomagnesaemia. Magnesium is said to be one of the chief neuroprotective and vasodilatory mineral of the body. The main aim of this study was to establish the potential correlation between the serum magnesium levels and the auditory acuity in type II Diabetes mellitus patients. Materials and Methods: It is a cross-sectional study done at Sree balaji medical college & hospital, Chrome pet, Chennai. In this study we evaluated a total of 200 type II DM cases consisting of 100 cases with poo

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Manouvrier, S., A. Rotig, G. Hannebique, et al. "Point mutation of the mitochondrial tRNA(Leu) gene (A 3243 G) in maternally inherited hypertrophic cardiomyopathy, diabetes mellitus, renal failure, and sensorineural deafness." Journal of Medical Genetics 32, no. 8 (1995): 654–56. http://dx.doi.org/10.1136/jmg.32.8.654.

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Kokotas, Haris, Maria Grigoriadou, George S. Korres, et al. "Screening of a Greek deafness population for the A7445G mitochondrial DNA mutation." Molecular Genetics and Metabolism 100, no. 3 (2010): 300–301. http://dx.doi.org/10.1016/j.ymgme.2010.03.016.

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Qian, Cynthia X., Kari Branham, Naheed Khan, Steven K. Lundy, John R. Heckenlively, and Thiran Jayasundera. "Cystoid macular changes on optical coherence tomography in a patient with maternally inherited diabetes and deafness (MIDD)-associated macular dystrophy." Ophthalmic Genetics 38, no. 5 (2017): 467–72. http://dx.doi.org/10.1080/13816810.2016.1253106.

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Bykhovskaya, Yelena, Emebet Mengesha, and Nathan Fischel-Ghodsian. "Phenotypic expression of maternally inherited deafness is affected by RNA modification and cytoplasmic ribosomal proteins." Molecular Genetics and Metabolism 97, no. 4 (2009): 297–304. http://dx.doi.org/10.1016/j.ymgme.2009.05.003.

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Riachi, Melissa, Sebahat Yilmaz, Erdal Kurnaz, et al. "Functional assessment of variants associated with Wolfram syndrome." Human Molecular Genetics 28, no. 22 (2019): 3815–24. http://dx.doi.org/10.1093/hmg/ddz212.

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Abstract Wolfram syndrome (WS) is a heterogeneous multisystem neurodegenerative disorder with two allelic variations in addition to a separate subtype known as WS type 2. The wide phenotypic spectrum of WS includes diabetes mellitus and optic atrophy which is often accompanied by diabetes insipidus, deafness, urological and neurological complications in combination or in isolation. To date, the understanding of the genotype-phenotype relationship in this complex syndrome remains poorly understood. In this study, we identified and explored the functionality of rare and novel variants in the two

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Oishi, Noriko, Daiki Kubota, Kenji Nakamoto, et al. "Multimodal imaging analysis of macular dystrophy in patient with maternally inherited diabetes and deafness (MIDD) with m.3243A>G mutation." Ophthalmic Genetics 42, no. 3 (2021): 304–11. http://dx.doi.org/10.1080/13816810.2021.1881978.

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Panfili, Eleonora, Giada Mondanelli, Ciriana Orabona, et al. "Novel mutations in the WFS1 gene are associated with Wolfram syndrome and systemic inflammation." Human Molecular Genetics 30, no. 3-4 (2021): 265–76. http://dx.doi.org/10.1093/hmg/ddab040.

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Abstract Mutations in the WFS1 gene, encoding wolframin (WFS1), cause endoplasmic reticulum (ER) stress and are associated with a rare autosomal-recessive disorder known as Wolfram syndrome (WS). WS is clinically characterized by childhood-onset diabetes mellitus, optic atrophy, deafness, diabetes insipidus and neurological signs. We identified two novel WFS1 mutations in a patient with WS, namely, c.316-1G &gt; A (in intron 3) and c.757A &gt; T (in exon 7). Both mutations, located in the N-terminal region of the protein, were predicted to generate a truncated and inactive form of WFS1

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Sack, Laura, Lauren Mertens, Elissa Murphy, Anne Giersch, and Heather Mason-Suares. "Leveraging unique chromosomal microarray probes to accurately detect copy number at the highly homologous 15q15.3 deafness-infertility syndrome locus." Molecular Genetics and Metabolism 132 (April 2021): S265—S266. http://dx.doi.org/10.1016/s1096-7192(21)00491-1.

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Gutiérrez Cortés, Nicolás, Claire Pertuiset, Elodie Dumon, et al. "Mutation m.3395A > G in MT-ND1 leads to variable pathologic manifestations." Human Molecular Genetics 29, no. 6 (2020): 980–89. http://dx.doi.org/10.1093/hmg/ddaa020.

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Abstract A non-synonymous mtDNA mutation, m.3395A &gt; G, which changes tyrosine in position 30 to cysteine in p.MT-ND1, was found in several patients with a wide range of clinical phenotypes such as deafness, diabetes and cerebellar syndrome but no Leber’s hereditary optic neuropathy. Although this mutation has already been described, its pathogenicity has not been demonstrated. Here, it was found isolated for the first time, allowing a study to investigate its pathogenicity. To do so, we constructed cybrid cell lines and carried out a functional study to assess the possible consequences

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Bykhovskaya, Yelena, Emebet Mengesha, Dai Wang, et al. "Phenotype of non-syndromic deafness associated with the mitochondrial A1555G mutation is modulated by mitochondrial RNA modifying enzymes MTO1 and GTPBP3." Molecular Genetics and Metabolism 83, no. 3 (2004): 199–206. http://dx.doi.org/10.1016/j.ymgme.2004.07.009.

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de Laat, Paul, Richard R. Rodenburg, Nel Roeleveld, Saskia Koene, Jan A. Smeitink, and Mirian CH Janssen. "Six-year prospective follow-up study in 151 carriers of the mitochondrial DNA 3243 A>G variant." Journal of Medical Genetics 58, no. 1 (2020): 48–55. http://dx.doi.org/10.1136/jmedgenet-2019-106800.

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BackgroundThe mitochondrial DNA (mDNA) 3243A>G variant is the most common pathogenic variant of the mDNA. To interpret results of clinical trials in mitochondrial disease, it is important to have a clear understanding of the natural course of disease. To obtain more insight into the disease burden and the progression of disease in carriers of the mDNA 3243 A>G variant, we followed a cohort of 151 carriers from 61 families prospectively for up to 6 years.MethodsThe disease severity was scored using the Newcastle Mitochondrial Disease Adult Scale (NMDAS), including SF-36 quality of life (Q

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Dill, Patricia, Jacques Schneider, Peter Weber, et al. "Pyridoxal phosphate-responsive seizures in a patient with cerebral folate deficiency (CFD) and congenital deafness with labyrinthine aplasia, microtia and microdontia (LAMM)." Molecular Genetics and Metabolism 104, no. 3 (2011): 362–68. http://dx.doi.org/10.1016/j.ymgme.2011.05.019.

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Wortmann, S., R. J. T. Rodenburg, M. Huizing, et al. "Association of 3-methylglutaconic aciduria with sensori-neural deafness, encephalopathy, and Leigh-like syndrome (MEGDEL association) in four patients with a disorder of the oxidative phosphorylation." Molecular Genetics and Metabolism 88, no. 1 (2006): 47–52. http://dx.doi.org/10.1016/j.ymgme.2006.01.013.

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Chakraborty, Mainak, Kalyan Roy, Arpan Sedhain, Pankaj Dhakal, and Gauthaman Karunakaran. "Zebrafish an emerging model for Preclinical Drug Discovery." International Journal of Research in Pharmaceutical Sciences 11, no. 2 (2020): 1638–48. http://dx.doi.org/10.26452/ijrps.v11i2.2046.

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For understanding the pathogenesis of human disease at cellular and molecular level bio medical research depends on the use of animal models. Maximum animal models used in medical research of human disease are basically performed in murine system. Though there are advantages of using these animals, murine’s have long gestational period, sexual maturation rate and are expensive. These invertebrates lack many structures and organ systems that are involved in human disease pathogenesis. Forward-genetic screens and random mutagenesis based reverse genetics though possible in mouse and are currentl

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Rong, Enguang, Hanbo Wang, Shujing Hao, Yuhong Fu, Yanyan Ma, and Tianze Wang. "Heteroplasmy Detection of Mitochondrial DNA A3243G Mutation Using Quantitative Real-Time PCR Assay Based on TaqMan-MGB Probes." BioMed Research International 2018 (November 13, 2018): 1–9. http://dx.doi.org/10.1155/2018/1286480.

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A point mutation of mitochondrial DNA (mtDNA) at nucleotide position 3243 A to G (mt.3243A>G) is involved in many common diseases, including maternally inherited diabetes and deafness (MIDD) and mitochondrial encephalomyopathy, lactic acidosis with stroke-like episodes (MELAS). However, the mutant level of mt.3243A>G varies both among individuals and in different organs, tissues, and even cells of single individuals. For detection of this mutation, current methods have limited universality and sensitivity and may be not adequate for a routine clinical test. Here, we develop and evaluate

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Acharya, Anushree, Syed Irfan Raza, Muhammad Zeeshan Anwar, et al. "Wolfram-like syndrome with bicuspid aortic valve due to a homozygous missense variant in CDK13." Journal of Human Genetics, April 21, 2021. http://dx.doi.org/10.1038/s10038-021-00922-0.

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Abstract Background Wolfram syndrome (WFS) is characterized by deafness, diabetes mellitus, and diabetes insipidus along with optic atrophy. WFS has an autosomal recessive mode of inheritance and is due to variants in WFS1 and CISD2. Methods We evaluated the underlying molecular etiology of three affected members of a consanguineous family with hearing impairment, bicuspid aortic valve, diabetes mellitus and insipidus, clinodactyly, and gastrointestinal tract abnormalities via exome sequencing approach. We correlated clinical and imaging data with the genetic findings and their associated phen

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Spehar Uroic, Anita, Dragan Milenkovic, Elisa De Franco, Ernest Bilic, Natasa Rojnic Putarek, and Nevena Krnic. "Importance of Immediate Thiamine Therapy in Children with Suspected Thiamine-Responsive Megaloblastic Anemia—Report on Two Patients Carrying a Novel SLC19A2 Gene Mutation." Journal of Pediatric Genetics, October 8, 2020. http://dx.doi.org/10.1055/s-0040-1717136.

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AbstractThiamine-responsive megaloblastic anemia (TRMA) is an autosomal recessive disorder characterized by the development of megaloblastic anemia, diabetes mellitus, and sensorineural deafness. We report on the first two Croatian patients with TRMA, compound heterozygotes for nonsense, c.373C > T; p.(Gln125Ter) and novel missense variant, c.1214C > G; p.(Thr405Arg) in SLC19A2 gene. The first was diagnosed at 4 months with diabetes mellitus and severe anemia requiring transfusions. As TRMA was suspected, thiamine therapy was immediately started to prevent further transfusions and insuli

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Fukao. "Comparison of mitochondrial A3243G mutation loads in easily accessible samples from a family with maternally inherited diabetes and deafness." Molecular Medicine Reports, 2008. http://dx.doi.org/10.3892/mmr_00000063.

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