Frequency and distribution of GJB2 (connexin 26) and GJB6 (connexin 30) mutations in a large North American repository of deaf probands

Pandya, Arti; Arnos, Kathleen S.; Xia, Xia J.; Welch, Katherine O.; Blanton, Susan H.; Friedman, Thomas B.; Sanchez, Guillermina Garcia; Liu, Xiu Z.; Morell, Robert J.; Nance, Walter E.

doi:10.1097/01.gim.0000078026.01140.68

Cited by 148 publications

(173 citation statements)

References 32 publications

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“…In this study, we found a 12.1% frequency of heterozygous index cases, a result that agrees with the literature 23,36,37 .…”

Section: Ic -Index Cases; Hl -Hearing Losssupporting

confidence: 81%

“…According to the literature, analyses of the GJB2 gene in patients with hearing impairment frequently demonstrate heterozygosis in about 10% to 42% of cases, in spite of the fact that most of the mutations are recessive 23,36,37 . In this study, we found a 12.1% frequency of heterozygous index cases, a result that agrees with the literature 23,36,37 .…”

Section: Ic -Index Cases; Hl -Hearing Lossmentioning

confidence: 99%

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Correlação entre dados audiométricos e mutação 35delG em dez pacientes

Piatto

Moreira

Silva

et al. 2007

Rev. Bras. Otorrinolaringol.

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Mutações no gene da conexina 26 parecem ser extremamente comuns na gênese da surdez hereditária não-sindrômica, especialmente, a mutação 35delG, mas ainda há poucos estudos que descrevem as características audiométricas dos pacientes portadores dessas mutações. OBJETIVO: Analisar as características audiométricas em pacientes com mutações no gene da conexina 26 para se delinear uma correlação genótipo-fenótipo. CASUÍSTICA E MÉTODO: Foram avaliadas audiometrias tonal de 33 casos-índice com surdez sensorioneural não-sindrômica e de 8 familiares afetados. Testes moleculares específicos foram realizados para analisar mutações no gene da conexina 26. FORMA DE ESTUDO: Estudo de casos, retrospectivo, em corte transversal. RESULTADOS: Foram encontradas as prevalências de 27,3% da mutação 35delG nos casos-índice e de 12,5% nos familiares afetados. Em relação aos graus de perda, foram encontrados, 41,5% dos pacientes com grau profundo, 39,0% com grau grave e 19,5% com grau moderado com, os pacientes homozigotos e heterozigotos para 35delG, predominando nos graus moderado-grave. CONCLUSÃO: Estes resultados sugerem que os dados audiométricos, associados ao diagnóstico molecular para a surdez, permitiram delinear uma correlação genótipo-fenótipo em dez pacientes com a mutação 35delG. Mas é necessário estudo multicêntrico para se verificar a real expressão fenotípica na população brasileira relacionada à mutação 35delG.

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“…In this study, we found a 12.1% frequency of heterozygous index cases, a result that agrees with the literature 23,36,37 .…”

Section: Ic -Index Cases; Hl -Hearing Losssupporting

confidence: 81%

Section: Ic -Index Cases; Hl -Hearing Lossmentioning

confidence: 99%

Correlação entre dados audiométricos e mutação 35delG em dez pacientes

Piatto

Moreira

Silva

et al. 2007

Rev. Bras. Otorrinolaringol.

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“…The prevalence of mutations in GJB2 and GJB6 genes in individuals with HL has been determined in different populations (Liu, et al, 2002;Morell, et al, 1998;Ohtsuka, et al, 2003;Pandya, et al, 2003;Park, et al, 2000). The frequency of the c.35delG mutation varied from 28 to 63% among individuals with nonsyndromic autosomal recessive HL, and from 10 to 30%, among sporadic cases (Feldmann, et In the present study, we identified the c.35delG mutation in 12.4% of 300 unrelated cases of hearing impairment, either sporadic or familial, thus corresponding to 72% (57/79) of the pathogenic alleles detected (Table 1).…”

Section: Discussionmentioning

confidence: 99%

Prevalence of GJB2 (Connexin-26) and GJB6 (Connexin-30) Mutations in a Cohort of 300 Brazilian Hearing-Impaired Individuals: Implications for Diagnosis and Genetic Counseling

et al. 2009

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Objective: Hereditary nonsyndromic deafness is an autosomal recessive condition in about 80% of cases, and point mutations in the GJB2 gene (connexin 26) and two deletions in the GJB6 gene (connexin 30), del(GJB6-D13S1830) and del(GJB6-D13S1854), are reported to account for 50% of recessive deafness. Aiming at establishing the frequencies of GJB2 mutations and GJB6 deletions in the Brazilian population, we screened 300 unrelated individuals with hearing impairment, who were not affected by known deafness related syndromes. Methods:We firstly screened the most frequently reported mutations, c.35delG and c.167delT in the GJB2 gene, and del(GJB6-D13S1830) and del(GJB6-D13S1854) in the GJB6 gene, through specific techniques. The detected c.35delG and c.167delT mutations were validated by sequencing. Other mutations in the GJB2 gene were screened by single-strand conformation polymorphism and the coding region was sequenced when abnormal patterns were found.

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“…30,31 Of particular note, the DFNB1 locus, which includes the GJB2 gene encoding the gap junction protein connexin 26 and the GJB6 gene encoding the gap junction protein connexin 30, accounts for an estimated 50% of all autosomal recessive nonsyndromic hearing loss and 15-40% of all deaf individuals in a variety of populations. 7,[32][33][34][35][36][37][38] More than 150 deafness-causing variants have been identified in GJB2, but a few common mutations account for a large percentage of alleles in several populations.…”

Section: Genetic and Nongenetic Etiologies Of Hearing Lossmentioning

confidence: 99%

“…One gene, GJB2, which encodes the gap junction protein connexin 26, accounts for the largest proportion of autosomal recessive early childhood hearing loss in many populations. 7 The prevalence of hearing loss increases with age, with 40-50% of the population experiencing hearing loss by age 75. 8 The contribution of genetic causes to cases of adult-onset hearing loss is less clear.…”

Section: Introductionmentioning

confidence: 99%

American College of Medical Genetics and Genomics guideline for the clinical evaluation and etiologic diagnosis of hearing loss

Alford

Arnos

Fox

et al. 2014

Genetics in Medicine

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214

134

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DEFINITIONSDeaf: a community with a distinct culture and language shaped by the experience of being deaf or hard of hearing, which may include deaf, hard-of-hearing, and hearing individuals deaf: an auditory phenotype characterized by a total or neartotal loss of the ability to hear hard of hearing: an auditory phenotype characterized by a partial loss of the ability to hear hearing loss: an auditory phenotype characterized by any degree of loss of the ability to hear; depending on cause, hearing loss can be temporary or permanent-this guideline focuses on permanent hearing loss Hearing loss is a common and complex condition that can occur at any age, can be inherited or acquired, and is associated with a remarkably wide array of etiologies. The diverse causes of hearing loss, combined with the highly variable and often overlapping presentations of different forms of hearing loss, challenge the ability of traditional clinical evaluations to arrive at an etiologic diagnosis for many deaf and hard-of-hearing individuals. However, identifying the etiology of a hearing loss may affect clinical management, improve prognostic accuracy, and refine genetic counseling and assessment of the likelihood of recurrence for relatives of deaf and hard-of-hearing individuals. Linguistic and cultural identities associated with being deaf or hard of hearing can complicate access to and the effectiveness of clinical care. These concerns can be minimized when genetic and other health-care services are provided in a linguistically and culturally sensitive manner. This guideline offers information about the frequency, causes, and presentations of hearing loss and suggests approaches to the clinical evaluation of deaf and hard-of-hearing individuals aimed at identifying an etiologic diagnosis and providing informative and effective patient education and genetic counseling.

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Frequency and distribution of GJB2 (connexin 26) and GJB6 (connexin 30) mutations in a large North American repository of deaf probands

Cited by 148 publications

References 32 publications

Correlação entre dados audiométricos e mutação 35delG em dez pacientes

Correlação entre dados audiométricos e mutação 35delG em dez pacientes

Prevalence of GJB2 (Connexin-26) and GJB6 (Connexin-30) Mutations in a Cohort of 300 Brazilian Hearing-Impaired Individuals: Implications for Diagnosis and Genetic Counseling

American College of Medical Genetics and Genomics guideline for the clinical evaluation and etiologic diagnosis of hearing loss

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