Abstract
This paper presents a mutation as well as a genotype-phenotype analysis of the GJB2 and GJB6 genes in 476 samples from non-syndromic unrelated Argentinean deaf patients (104 familial and 372 sporadic cases). Most of them were of prelingual onset (82 %) and 27 % were cochlear implanted. Variation of sequences was detected in 171 of the 474 patients (36 %). Overall, 43 different sequence variations were identified in GJB2 and GJB6. Four of them are reported for the first time in GJB2: c.233dupG, p.Ala78Ser, p.Val190Asp and p.Cys211Tyr. Mutations in GJB6 were detected in 3 % of patients [nine del(GJB6-D13S1830) and three del(GJB6-D13S1854)]. Of the 43 different variations identified in GJB2, 6 were polymorphisms and of the others, 10 (27 %) were truncating and 27 (73 %) were nontruncating. Patients with two truncating mutations had significantly worse hearing impairment than all other groups. Moderate phenotypes were observed in a group of patients carrying biallelic mutations (23 %). This work shows the high prevalence of GJB2 mutations in the Argentinean population and presents an analysis of moderate phenotypes in our cohort.
Original language | English (US) |
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Pages (from-to) | 6945-6955 |
Number of pages | 11 |
Journal | Molecular Biology Reports |
Volume | 40 |
Issue number | 12 |
DOIs | |
State | Published - Dec 2013 |
Externally published | Yes |
Keywords
- Autosomal recessive deafness
- Connexin 26
- Deafness
- DFNB1
- GJB2
- GJB6
- Hearing loss
- Moderate hearing loss
- Molecular study
- Novel mutations
ASJC Scopus subject areas
- Genetics
- Molecular Biology