Large deletion of the <i>GJB6</i> gene in deaf patients heterozygous for the <i>GJB2</i> gene mutation: Genotypic and phenotypic analysis

Feldmann, Delphine; Denoyelle, Françoise; Chauvin, Pierre; Garabédian, Éréa-Noël; Couderc, Rémy; Odent, S.; Joannard, A; Schmerber, S.; Delobel, Bruno; Leman, J.; Journel, Hubert; Catros, Hélène; Maréchal, Cédric Le; Dollfus, Hélène; Eliot, Marie-Madeleine; Delaunoy, Jean‐Pierre; David, Albert; Calais, C.; Drouin‐Garraud, Valérie; Obstoy, Marie-Françoise; Bouccara, D.; Sterkers, Olivier; Huy, P. Tran Ba; Goizet, Cyril; Duriez, Françoise; Fellmann, Florence; Hélias, J; Vigneron, Jacqueline; Montaut, Bétina; Lewin, Patricia; Petit, Christine; Marlin, Sandrine

doi:10.1002/ajmg.a.20588

Cited by 43 publications

(25 citation statements)

References 22 publications

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“…Unfortu- nately, Portugal, Guyana and Sri Lanka, three countries from where substantial amounts of Toronto's immigrant population derive, were not represented in the sample population studied. The prevalence of GJB2 mutations in 36.9% of our paediatric cochlear implant users concurs with other studies in the literature [16,21,23,41]. Biallelic GJB2 mutations were found in 16 cochlear implant users, representing 66.7% of all GJB2 mutations identified, and the largest number of biallelic GJB2 mutations reported in pediatric cochlear implant users to date.…”

Section: Discussionsupporting

confidence: 89%

Ethnicity and mutations in GJB2 (connexin 26) and GJB6 (connexin 30) in a multi-cultural Canadian paediatric Cochlear Implant Program

Propst

Stockley

Gordon

et al. 2006

International Journal of Pediatric Otorhinolaryngology

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Section: Discussionsupporting

confidence: 89%

Ethnicity and mutations in GJB2 (connexin 26) and GJB6 (connexin 30) in a multi-cultural Canadian paediatric Cochlear Implant Program

Propst

Stockley

Gordon

et al. 2006

International Journal of Pediatric Otorhinolaryngology

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“…In three of our probands with del(GJB6-D13S1830)/c.35delG, hearing impairment was profound (Table 2), being in average more severe than in individuals carrying two GJB2 mutations (Feldmann, et al, 2004;Roux, et al, 2004).…”

Section: Discussionmentioning

confidence: 69%

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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“…[43][44][45] GJB6 deletions have been observed in multiple populations, although they appear to be a relatively uncommon explanation for hearing loss in the United States. [46][47][48] Notably, hearing loss caused by certain dominant mutations in GJB2, although uncommon, may present as a syndromic hearing loss, with associated skin findings. [49][50][51] Nonsyndromic mitochondrial hearing loss is characterized by audiograms that fall into the moderate-to-profound range and is associated with variants in either the MT-RNR1 gene encoding the mitochondrial 12S ribosomal RNA or the MT-TS1 gene encoding the mitochondrial transfer RNA Ser(UCN).…”

Section: Genetic and Nongenetic Etiologies Of Hearing Lossmentioning

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

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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Large deletion of the GJB6 gene in deaf patients heterozygous for the GJB2 gene mutation: Genotypic and phenotypic analysis

Cited by 43 publications

References 22 publications

Ethnicity and mutations in GJB2 (connexin 26) and GJB6 (connexin 30) in a multi-cultural Canadian paediatric Cochlear Implant Program

Ethnicity and mutations in GJB2 (connexin 26) and GJB6 (connexin 30) in a multi-cultural Canadian paediatric Cochlear Implant Program

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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