|
KMID : 1039520190230010020
|
|
Journal of Audiology & Otology
2019 Volume.23 No. 1 p.20 ~ p.26
|
|
|
Mutations in GJB2 as Major Causes of Autosomal Recessive Non-Syndromic Hearing Loss: First Report of c.299-300delAT Mutation in Kurdish Population of Iran
|
|
Azadegan-Dehkordi Fatemeh
Bahrami Tayyebe
Shirzad Maryam
Karbasi Gelareh
Yazdanpanahi Nasrin
Farrokhi Effat
Koohiyan Mahbobeh
Hashemzadeh-Chaleshtori Morteza
|
|
|
Abstract
|
|
|
Background and Objectives: Autosomal recessive non-syndromic hearing loss (ARNSHL) with genetic origin is common (1/2000 births). ARNSHL can be associated with mutations in gap junction protein beta 2 (GJB2). To this end, this cohort investigation aimed to find the contribution of GJB2 gene mutations with the genotype-phenotype correlations in 45 ARNSHL cases in the Kurdish population.
Subjects and Methods: Genomic DNA was extracted from a total of 45 ARNSHL families. The linkage analysis with 3 short tandem repeat markers linked to GJB2 was performed on 45 ARNSHL families. Only 9 of these families were linked to the DFNB1 locus. All the 45 families who took part were sequenced for confirmation linkage analysis (to perform a large project).
Results: A total of three different mutations were determined. Two of which [c.35delG and c.-23+1G>A (IVS1+1G>A)] were previously reported but (c.299-300delAT) mutation was novel in the Kurdish population. The homozygous pathogenic mutations of GJB2 gene was observed in nine out of the 45 families (20%), also heterozygous genotype (c.35delG/N)+(c.-23+1G>A/c.-23+1G>A) were observed in 4/45 families (8.8%). The degree of hearing loss (HL) in patients with other mutations was less severe than patients with c.35delG homozygous mutation (p<0.001).
Conclusions: Our data suggest that GJB2 mutations constitute 20% of the etiology of ARNSHL in Iran; moreover, the c.35delG mutation is the most common HL cause in the Kurdish population. Therefore, these mutations should be included in the molecular testing of HL in this population.
|
|
|
KEYWORD
|
|
|
Hearing loss, Autosomal recessive non-syndromic hearing loss, Gap junction protein beta 2
|
|
|
FullTexts / Linksout information
|
|
|
|
|
Listed journal information
|
|
 
|