Artigos de revistas: "Postlingual hearing impairment"

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Gao, Xue, Yong-Yi Yuan, Guo-Jian Wang, Jin-Cao Xu, Yu Su, Xi Lin e Pu Dai. "Novel Mutations and Mutation Combinations ofTMPRSS3Cause Various Phenotypes in One Chinese Family with Autosomal Recessive Hearing Impairment". BioMed Research International 2017 (2017): 1–8. http://dx.doi.org/10.1155/2017/4707315.

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Autosomal recessive hearing impairment with postlingual onset is rare. Exceptions are caused by mutations in theTMPRSS3gene, which can lead to prelingual (DFNB10) as well as postlingual deafness (DFNB8).TMPRSS3mutations can be classified as mild or severe, and the phenotype is dependent on the combination ofTMPRSS3mutations. The combination of two severe mutations leads to profound hearing impairment with a prelingual onset, whereas severe mutations in combination with milderTMPRSS3mutations lead to a milder phenotype with postlingual onset. We characterized a Chinese family (number FH1523) with not only prelingual but also postlingual hearing impairment. Three mutations inTMPRSS3, one novel mutation c.36delC [p.(Phe13Serfs⁎12)], and two previously reported pathogenic mutations, c.916G>A (p.Ala306Thr) and c.316C>T (p.Arg106Cys), were identified. Compound heterozygous mutations of p.(Phe13Serfs⁎12) and p.Ala306Thr manifest as prelingual, profound hearing impairment in the patient (IV: 1), whereas the combination of p.Arg106Cys and p.Ala306Thr manifests as postlingual, milder hearing impairment in the patient (II: 2, II: 3, II: 5), suggesting that p.Arg106Cys mutation has a milder effect than p.(Phe13Serfs⁎12). We concluded that different combinations ofTMPRSS3mutations led to different hearing impairment phenotypes (DFNB8/DFNB10) in this family.

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Jacobs, Howard T., Timothy P. Hutchin, Timo Käppi, Greta Gillies, Kia Minkkinen, John Walker, Karen Thompson et al. "Mitochondrial DNA mutations in patients with postlingual, nonsyndromic hearing impairment". European Journal of Human Genetics 13, n.º 1 (4 de agosto de 2004): 26–33. http://dx.doi.org/10.1038/sj.ejhg.5201250.

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Booth, Kevin T., Kimia Kahrizi, Hossein Najmabadi, Hela Azaiez e Richard JH Smith. "Old gene, new phenotype: splice-altering variants in CEACAM16 cause recessive non-syndromic hearing impairment". Journal of Medical Genetics 55, n.º 8 (27 de abril de 2018): 555–60. http://dx.doi.org/10.1136/jmedgenet-2018-105349.

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BackgroundHearing loss is a genetically and phenotypically heterogeneous disorder.ObjectivesThe purpose of this study was to determine the genetic cause underlying the postlingual progressive hearing loss in two Iranian families.MethodsWe used OtoSCOPE, a next-generation sequencing platform targeting >150 genes causally linked to deafness, to screen two deaf probands. Data analysis was completed using a custom bioinformatics pipeline, and variants were functionally assessed using minigene splicing assays.ResultsWe identified two homozygous splice-altering variants (c.37G>T and c.662–1G>C) in the CEACAM16 gene, segregating with the deafness in each family. The minigene splicing results revealed the c.37G>T results in complete skipping of exon 2 and loss of the AUG start site. The c.662–1G>C activates a cryptic splice site inside exon 5 resulting in a shift in the mRNA reading frame.ConclusionsThese results suggest that loss-of-function mutations in CEACAM16 result in postlingual progressive hearing impairment and further support the role of CEACAM16 in auditory function.

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Pereira, Fabiane S., Suelen Nicole S. Lobato, Juliana Sequeira C. Oliveira, Cyntia T. Yamaguchi, José Claudio B. Cordeiro e Olavo F. Galvão. "Auditory-Visual Discrimination in Adults with Postlingual Hearing Impairment and Cochlear Implants". Temas em Psicologia 25, n.º 3 (2017): 1385–96. http://dx.doi.org/10.9788/tp2017.3-20en.

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Gandía, Marta, Francisco J. del Castillo, Francisco J. Rodríguez-Álvarez, Gema Garrido, Manuela Villamar, Manuela Calderón, Miguel A. Moreno-Pelayo, Felipe Moreno e Ignacio del Castillo. "A Novel Splice-Site Mutation in the GJB2 Gene Causing Mild Postlingual Hearing Impairment". PLoS ONE 8, n.º 9 (6 de setembro de 2013): e73566. http://dx.doi.org/10.1371/journal.pone.0073566.

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Lang-Roth, Ruth, Eva Fischer-Krall, Cornelia Kornblum, Gudrun Nürnberg, Dieter Meschede, Ingrid Goebel, Peter Nürnberg et al. "AUNA2: A Novel Type of Non-Syndromic Slowly Progressive Auditory Synaptopathy/Auditory Neuropathy with Autosomal-Dominant Inheritance". Audiology and Neurotology 22, n.º 1 (2017): 30–40. http://dx.doi.org/10.1159/000474929.

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Background: Auditory synaptopathy/neuropathy (AS/AN) is a heterogeneous disorder, which may be caused by environmental factors like postnatal hyperbilirubinemia or by genetic factors. The genetic forms are subdivided into syndromic and non-syndromic types, and show different inheritance patterns with a strong preponderance of autosomal-recessive forms. To date, only a single locus for non-syndromic autosomal-dominant AS/AN (AUNA1) has been reported in a single family, in which a non-coding DIAPH3 mutation was subsequently described as causative. Materials and Methods: Here, we report detailed clinical data on a large German AS/AN family with slowly progressive postlingual hearing loss. Affected family members developed their first symptoms in their second decade. Moderate hearing loss in the fourth decade then progressed to profound hearing impairment in older family members. Comprehensive audiological and neurological tests were performed in the affected family members. Genetic testing comprised linkage analyses with polymorphic markers and a genome-wide linkage analysis using the Affymetrix GeneChip® Human Mapping 250K. Results and Conclusion: We identified a large family with autosomal-dominant AS/AN. By means of linkage analyses, the AUNA1 locus was excluded, and putatively linked regions on chromosomal bands 12q24 and 13q34 were identified as likely carrying the second locus for autosomal-dominant AS/AN (AUNA2). AUNA2 is associated with a slowly progressive postlingual hearing loss without any evidence for additional symptoms in other organ systems.

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Bergman, Pia, Björn Lyxell, Henrik Harder e Elina Mäki-Torkko. "The Outcome of Unilateral Cochlear Implantation in Adults: Speech Recognition, Health-Related Quality of Life and Level of Anxiety and Depression: a One- and Three-Year Follow-Up Study". International Archives of Otorhinolaryngology 24, n.º 03 (13 de dezembro de 2019): e338-e346. http://dx.doi.org/10.1055/s-0039-3399540.

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Abstract Introduction Hearing impairment is a common disease worldwide, with a comprehensive impact, and cochlear implantation (CI) is an intervention for profound hearing impairment. Objective To study the outcome one and three years after unilateral CI on hearing, health-related quality of life and level of depression and anxiety, and the correlation between the outcomes. Second, to study whether age, gender, etiology, operated side, residual hearing or cognitive performance can predict the outcome. Methods A prospective longitudinal study including adults with profound postlingual hearing impairment, with respect to hearing (speech recognition), health-related quality of life (Health Utilities Index 3) and level of depression and anxiety (Hospital Anxiety and Depression scale), pre-CI, and one and three years post-CI. The total sample was composed of 40 participants (40% of men), with a mean age of 71 years. Results Speech recognition and the overall health-related quality of life improved one year post-CI (p = 0.000), without correlation (ρ= 0.27), and with no difference three years post-CI. The hearing attribute (in the health-related quality of life instrument) improved one and three years post-CI (p = 0.000). The level of anxiety did not change one and three years post-CI. The level of depression improved one year post-CI (p = 0.036), and deteriorated three years post-CI (p = 0.031). Age, etiology, operated side, residual hearing and cognitive performance did not predict the outcome, but the female gender did significantly improve speech recognition compared with men (p = 0.009). Conclusion The CI significantly improved speech recognition, health-related quality of life and level of depression one year post-CI without mutual correlation, and women performed significantly better than men. There were no further improvements three years post-CI, apart from the hearing attribute.

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Pollak, Agnieszka, Malgorzata Mueller-Malesinska, Urszula Lechowicz, Agata Skorka, Lech Korniszewski, Agnieszka Sobczyk-Kopciol, Anna Waskiewicz et al. "MTHFR 677T Is a Strong Determinant of the Degree of Hearing Loss Among Polish Males with Postlingual Sensorineural Hearing Impairment". DNA and Cell Biology 31, n.º 7 (julho de 2012): 1267–73. http://dx.doi.org/10.1089/dna.2012.1607.

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Hofrichter, Michaela A. H., Indrajit Nanda, Jens Gr�f, J�rg Schr�der, Wafaa Shehata-Dieler, Barbara Vona e Thomas Haaf. "A Novel de novo Mutation in CEACAM16 Associated with Postlingual Hearing Impairment". Molecular Syndromology 6, n.º 4 (3 de setembro de 2015): 156–63. http://dx.doi.org/10.1159/000439576.

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Mittal, Rahul, Kunal Patel, Jeenu Mittal, Brandon Chan, Denise Yan, M’hamed Grati e Xue Zhong Liu. "Association ofPRPS1Mutations with Disease Phenotypes". Disease Markers 2015 (2015): 1–7. http://dx.doi.org/10.1155/2015/127013.

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Phosphoribosylpyrophosphate synthetase 1(PRPS1) codes for PRS-I enzyme that catalyzes the first step of nucleotide synthesis.PRPS1gene mutations have been implicated in a number of human diseases. Recently, new mutations inPRPS1have been identified that have been associated with novel phenotypes like diabetes insipidus expanding the spectrum ofPRPS1-related diseases. The purpose of this review is to evaluate current literature onPRPS1-related syndromes and summarize potential therapies. The overexpression ofPRPS1results in PRS-I superactivity resulting in purine overproduction. Patients with PRS-I superactivity demonstrate uric acid overproduction, hypotonia, ataxia, neurodevelopment abnormalities, and postlingual hearing impairment. On the other hand, decreased activity leads to X-linked nonsyndromic sensorineural deafness (DFNX-2), Charcot-Marie-Tooth disease-5 (CMTX5), and Arts syndrome depending on the residual activity of PRS-I. Mild PRS-I deficiency (DFNX-2) results in non-syndromic progressive hearing loss whereas moderate PRS-I deficiency (CMTX5) and severe PRS-I deficiency (Arts syndrome) present with peripheral or optic neuropathy, prelingual progressive sensorineural hearing loss, and central nervous system impairment. Currently, purine replacement via S-adenosylmethionine (SAM) supplementation in patients with Arts syndrome appears to improve their condition. This suggests that SAM supplementation can alleviate symptoms ofPRPS1deficient patients and open new avenues of therapeutic intervention.

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Sun, Yi, Jing Chen, Hanjun Sun, Jing Cheng, Jianzhong Li, Yu Lu, Yanping Lu et al. "Novel missense mutations in MYO7A underlying postlingual high- or low-frequency non-syndromic hearing impairment in two large families from China". Journal of Human Genetics 56, n.º 1 (9 de dezembro de 2010): 64–70. http://dx.doi.org/10.1038/jhg.2010.147.

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Stefanovska, Emilija Sukarova, Gjorgji Bozhinovski, Ana Momirovska, Marina Davceva Cakar, Elena Sukarova-Angelovska e Dijana Plaseska-Karanfilska. "Mutation Analysis of the Common Deafness Genes in Patients with Nonsyndromic Hearing Loss in Republic of Macedonia". Macedonian Medical Review 71, n.º 1 (1 de janeiro de 2017): 20–26. http://dx.doi.org/10.1515/mmr-2017-0005.

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Abstract Hearing impairment is the most common sensory disorder, which occurs in 1 of 1000 newborns. It is caused by heterogeneous conditions with more than a half due to genetic etiology. Although hundreds of genes are implicated in hearing process and have been found to be associated with nonsyndromic hearing loss, pathogenic variants in GJB2 gene have been considered as the main cause of deafness among nonsyndromic hearing loss (NSHL) population worldwide. Pathogenic variants in MT-RNR1 or mtDNA12SrRNA gene were also implicated predominantly in postlingual progresive deafness. The aim of this study was to analyze the implication of GJB2 and MT-RNR1 genes in the molecular etiology of deafness among 130 NSHL patients in the Republic of Macedonia. The presence of the del (GJB6-D13S1830) was also analysed. We performed SSCP and/or sequence analysis of GJB2 and identified sequence variants in 62 out of 130 patients (47.7%); (51 homozygous or compound heterozygous and 11 with only one variant allele). We found 8 different allelic variants, the most prevalent being c.35delG (65.49%), and p.W24*(23.01%), followed by other less frequent alleles (p.V27I, p.V37I, p. P175T and cd. delE120 or delGAG at 360). In addition, two polymorphic substitutions in the GJB2 gene with no clinical significance (p.V153I and p.R127H) were detected. No del(GJB6-D13S1830) was found. SNaPshot analysis was used to screen for the five most frequent allelic variants in the MT-RNR1 gene. Two MT-RNR1 mutations (A827G and T961G) were detected in three patients where only one GJB2 pathogenic variant was found. A new MT-RNR1 gene variant G1303A was also detected. In conclusion, MT-RNR1 mutations were not a significant contributor to the etiology of deafness in Macedonia, although could be considered as a modifier gene affecting the expression of deafness in patients carrying one GJB2 variant. On the other hand, the high percenttage of GJB2 pathogenic variants identified among NSHL cases indicates the necessity of molecular newborn screening for the two most common GJB2 variants (c.35delG and p.W24*) in the Republic of Macedonia.

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Classon, Elisabet, Ulrika Löfkvist, Mary Rudner e Jerker Rönnberg. "Verbal fluency in adults with postlingually acquired hearing impairment". Speech, Language and Hearing 17, n.º 2 (6 de fevereiro de 2014): 88–100. http://dx.doi.org/10.1179/205057113x13781290153457.

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Komazec, Zoran, Dragan Dankuc, Ljiljana Vlaski, Slobodanka Lemajic-Komazec, Spomenka Nedeljkov e Ivana Sokolovac. "Cochlear implantation at the ear, nose and throat clinic of the Clinical center of Vojvodina". Medical review 60, n.º 11-12 (2007): 643–48. http://dx.doi.org/10.2298/mpns0712643k.

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Introduction. A cochlear implant is a small electronic device that can provide a sense of sound to a person who is profoundly deaf or severely hard-of-hearing. Cochlear implants bypass the damaged hearing systems and directly stimulate the auditory nerve. Signals generated by the implant are sent by way of the auditory nerve to the brain, which recognizes the signals as sound. Hearing through a cochlear implant differs from normal hearing and takes time to learn or relearn. Cochlear implantations have been performed at the ENT Clinic in Novi Sad since 2002. The aim of this retrospective investigation was to evaluate performance of cochlear implanted patients in regard to the age of hearing loss identification, age at implantation, as well as complications. Material and Methods. During a 5-year period (2002-2007), 45 patients underwent cochlear implantation (46 implants) at the ENT Clinic in Novi Sad. Only four patients were postlingually deaf adults. Forty-one implanted patients were children with a mean age at implantation of 42.2 months (range: 2 to 8 years). Out of these patients, 28 (68.2%) had congenital deafness of unknown cause. The commonest known cause was meningitis, found in 4 (9.7%) patients, followed by use of ototoxic drugs and hereditary deafness. Etiological factors included: postnatal hypoxia, intracranial hemorrhage, pre term birth, cytomegalovirus infection during pregnancy, middle ear cholesteatoma, as well as sudden bilateral deafness. The time span between diagnosis of hearing loss and implantation was 34.6 months in 2002 and only 10 months in 2007. Results. 6 (13%) patients presented with complications. There were 4 major, and two minor complications. The following complications were noted: ossified cochlea which required reoperation, unsuccessful operation in a patient with Down syndrome, facial tics, temporary facial weakness and ataxia. Five out of six complications were successfully resolved. Conclusion. New, more sophisticated audiological evaluation is essential to shorten the time for diagnosing hearing impairment. The results of the investigation performed at the Cochlear Implantation Center of the ENT Clinic in Novi Sad show that cochlear implantation is an effective procedure which should be continued.

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Talarico, Thais Rodrigues, Cilmara Cristina Alves Costa Levy e Carmen Lucia Penteado Lancellotti. "Qualidade de vida de pacientes deficientes auditivos adultos pré e pós-linguais usuários de implante coclear / Quality of life for adult patients of pre-lingual and post-lingual deafness cochlear implantation users". Arquivos Médicos dos Hospitais e da Faculdade de Ciências Médicas da Santa Casa de São Paulo 65, n.º 1 (30 de novembro de 2020): 1. http://dx.doi.org/10.26432/1809-3019.2020.65.037.

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Objetivo: Avaliar a qualidade de vida (QV) de pacientes adultos com deficiência auditiva pré e pós-lingual usuários de implante coclear (IC). Método: Os pacientes entrevistados foram adultos implantados de 2004 a 2011 no Departamento de Otorrinolaringologia. Eles responderam ao questionário WHOQoL–BREF e, pela analise dos prontuários, foram identificados como pré ou pós-linguais. Desses pacientes, 17 eram pós-linguais e 8 pré-linguais. Resultados: Verificou-se que, no questionário geral, os participantes pré-linguais apresentaram resultado (escore = 77,4) e os pós-linguais, (escore = 76,3). Os melhores resultados foram os dos domínios físico e psicológico, tanto entre os pacientes pré quanto entre os pós-linguais. Conclusões: Podemos constatar que os pacientes pré-linguais apresentam um resultado pouco melhor que os pós-linguais na pontuação total do questionário, mas a análise dos benefícios do IC nos demais domínios mostrou resultados similares nos dois grupos pesquisados.Palavras chave: Implante coclear, Qualidade de vida, Perfil de impacto da doença, Adulto, Pessoas com deficiência auditivaABSTRACTPurpose: Assess quality of life of adult pre and postlingual hearing impaired patients users of cochlear implants. Method: The interviewed patients were adults who had received their implants between 2004 and 2011 at the Department of Otolaryngology. The questionnaire WHOQoL–BREF was applied and patient records were used to check whether the patient had pre or post-lingual hearing loss. Out of the total, there were 17 post-lingual and 8 pre-lingual patients. Results: We have noticed that pre-lingual patients had the score in the general questionnaire of 77.4, whereas post-lingual subjects reached the score 76.3 in the general questionnaire. The domains that showed good results for pre-lingual subjects were physical (score= 82.4) and psychological (score 78.1), and for post-lingual subjects the score for physical and psychological domains were 82.3 and 77.4, respectively. Conclusion: We have observed that pre-lingual patients presented somewhat worse results than post-lingual subjects in the general score, but when the benefits of cochlear implant are taken into account, this difference between the groups practically disappears.Keywords: Cochlear implantation, Quality of life, Sickness impact profile, Adult, Persons with hearing impairments

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Blankenship, Chelsea, Fawen Zhang e Robert Keith. "Behavioral Measures of Temporal Processing and Speech Perception in Cochlear Implant Users". Journal of the American Academy of Audiology 27, n.º 09 (outubro de 2016): 701–13. http://dx.doi.org/10.3766/jaaa.15026.

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Background: Although most cochlear implant (CI) users achieve improvements in speech perception, there is still a wide variability in speech perception outcomes. There is a growing body of literature that supports the relationship between individual differences in temporal processing and speech perception performance in CI users. Previous psychophysical studies have emphasized the importance of temporal acuity for overall speech perception performance. Measurement of gap detection thresholds (GDTs) is the most common measure currently used to assess temporal resolution. However, most GDT studies completed with CI participants used direct electrical stimulation not acoustic stimulation and they used psychoacoustic research paradigms that are not easy to administer clinically. Therefore, it is necessary to determine if the variance in GDTs assessed with clinical measures of temporal processing such as the Randomized Gap Detection Test (RGDT) can be used to explain the variability in speech perception performance. Purpose: The primary goal of this study was to investigate the relationship between temporal processing and speech perception performance in CI users. Research Design: A correlational study investigating the relationship between behavioral GDTs (assessed with the RGDT or the Expanded Randomized Gap Detection Test) and commonly used speech perception measures (assessed with the Speech Recognition Test [SRT], Central Institute for the Deaf W-22 Word Recognition Test [W-22], Consonant-Nucleus-Consonant Test [CNC], Arizona Biomedical Sentence Recognition Test [AzBio], Bamford–Kowal–Bench Speech-in-Noise Test [BKB-SIN]). Study Sample: Twelve postlingually deafened adult CI users (24–83 yr) and ten normal-hearing (NH; 22–30 yr) adults participated in the study. Data Collection and Analysis: The data were collected in a sound-attenuated test booth. After measuring pure-tone thresholds, GDTs and speech perception performance were measured. The difference in performance between-participant groups on the aforementioned tests, as well as the correlation between GDTs and speech perception performance was examined. The correlations between participants’ biologic factors, performance on the RGDT and speech perception measures were also explored. Results: Although some CI participants performed as well as the NH listeners, the majority of the CI participants displayed temporal processing impairments (GDTs > 20 msec) and poorer speech perception performance than NH participants. A statistically significant difference was found between the NH and CI test groups in GDTs and some speech tests (SRT, W-22, and BKB-SIN). For the CI group, there were significant correlations between GDTs and some measures of speech perception (CNC Phoneme, AzBio, BKB-SIN); however, no significant correlations were found between biographic factors and GDTs or speech perception performance. Conclusions: Results support the theory that the variability in temporal acuity in CI users contributes to the variability in speech performance. Results also indicate that it is reasonable to use the clinically available RGDT to identify CI users with temporal processing impairments for further appropriate rehabilitation.

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Пшенникова, В. Г., Г. П. Романов, Т. М. Николаева, Ф. М. Терютин, Т. В. Борисова, И. Ф. Комарьков, А. В. Антонец et al. "A novel nonsense mutation c.1121G>A (p.Trp374*) in the CLIC5 gene is the main cause of the juvenile autosomal recessive form of deafness (DFNB103) in the Arctic regions of Yakutia". Nauchno-prakticheskii zhurnal «Medicinskaia genetika», n.º 10() (30 de outubro de 2019): 36–48. http://dx.doi.org/10.25557/2073-7998.2019.10.36-48.

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Наиболее частой причиной несиндромальной потери слуха являются мутации гена GJB2. Ранее было показано, что в Якутии вклад мутаций гена GJB2 в потерю слуха среди пациентов с врожденной тугоухостью составил 49%. Целью данной работы являлся поиск молекулярно-генетических основ потери слуха среди GJB2-негативных пациентов, у которых причина заболевания осталась неустановленной. В исследование были включены 238 (228 неродственных) GJB2-негативных пациентов, среди которых мы обнаружили одну семью с 5 пораженными индивидами с ювенильной потерей слуха неизвестной этиологии (дебют заболевания варьировал от 0 до 8 лет). Путём полноэкзомного анализа (WES), проведенного у одного из пораженных членов семьи, была выявлена ранее не описанная гомозиготная замена c.1121G>A в 6-ом экзоне гена CLIC5 (6p21.1, OMIM 607293). Данная транзиция приводит к образованию преждевременного стоп-кодона в 374-ой аминокислотной позиции (p.Trp374*), терминирующего синтез полипептидной цепи белка CLIC5 (NP_001107558.1). В гене CLIC5 известна только одна гомозиготная замена c.96T>A (р.Cys32*), которая ранее была найдена в инбредной турецкой семье с постлингвальной прогрессирующей аутосомно-рецессивной глухотой (DFNB103). В настоящей работе гомозиготный вариант c.1121G>A (p.Trp374*) был выявлен у 26 из 238 GJB2-негативных пациентов (10,9%). У большинства из них (19 из 26) отмечается поздний дебют потери слуха в среднем в 9,7±0,6 лет. Аудиологическое обследование у 13 из 26 пациентов выявило преимущественно симметричную сенсоневральную прогрессирующую потерю слуха различной степени тяжести (от донозологической и I-ой степени тугоухости до глухоты). Распространенность DFNB103, обусловленной гомозиготным вариантом c.1121G>A (p.Trp374*) гена CLIC5, в Якутии составила в среднем 0,27±0,05 на 10000 человек с максимальным накоплением в Эвено-Бытантайском национальном районе (31,39±10,46 на 10000 человек), который относится к арктической группе улусов, где большинство населения составляют эвены (53%). Это первый в России случай идентификации орфанного заболевания, накопление которого обнаружено в Арктике. В целом, гомозиготный вариант c.1121G>A (p.Trp374*) гена CLIC5 можно расценивать как каузативный для DFNB103 с высоким вкладом в этиологию нарушений слуха у населения Якутии. The most common cause of non-syndromic hearing loss in various populations of the world is the mutations in the GJB2 gene. Previously it was shown that the pathogenic contribution of the GJB2-mutations among patients with congenital hearing loss in Yakutia was 49%. The aim of this work was to investigate the molecular genetic basis of hearing loss among GJB2-negative patients. The study included 238 (228 unrelated) GJB2-negative patients, among them we found one family with five affected individuals with juvenile hearing loss of unknown etiology (the disease onset varied from 0 to 8 years). Using a whole exome sequencing (WES), performed in one of affected family members, a novel homozygous c.1121G>A (6p21.1, OMIM 607293) substitution in exon 6 of the CLIC5 gene was detected. This substitution leads to the formation of a premature stop codon at the 374 amino acid position (p.Trp374*) which terminates the synthesis of the polypeptide chain of the CLIC5 protein (NP_001107558.1). To date, only one homozygous mutation c.96T>A (p.Cys32*) was known in human gene CLIC5 which was found in one inbred Turkish family with progressive autosomal recessive deafness, type 103 (DFNB103). In our study, a homozygous variant c.1121G>A (p.Trp374*) was detected in 26 out of 238 GJB2-negative patients in Yakutia (10.9%). Most of homozygous for c.1121G>A patients (19 out of 26) reported about late onset of their hearing loss occurred in postlingual period (averaged 9.7±0.6 years). Audiological examination of 13 out of 26 patients revealed predominantly symmetric sensorineural progressive hearing loss of varying severity (from mild to profound hearing loss). The average prevalence of DFNB103 caused by the homozygous variant c.1121G>A (p.Trp374*) in Yakutia was 0.27±0.053 per 10000 with a maximum accumulation in Eveno-Bytantaysky district (31.39±10.46 per 10000) which referred to the Arctic group of districts where the majority of the population is represented by Evens (53%). This is the first case of the identification of the orphan disease with its accumulation in Arctic part of Russia. In general, the homozygous variant c.1121G>A (p.Trp374*) of the CLIC5 gene can be regarded as causative to DFNB103 with a high contribution to the etiology of hearing impairments in the population of Yakutia.

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GandÃa, Marta, Francisco J. del Castillo, Francisco J. RodrÃguez-Ãlvarez, Gema Garrido, Manuela Villamar, Manuela CalderÃ³n, Miguel A. Moreno-Pelayo, Felipe Moreno e Ignacio del Castillo. "Correction: A Novel Splice-Site Mutation in the GJB2 Gene Causing Mild Postlingual Hearing Impairment". PLoS ONE 9, n.º 1 (6 de janeiro de 2014). http://dx.doi.org/10.1371/annotation/571fea42-45d0-4dcc-a676-6709c60c2cad.

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