A Mutation Analysis of GJB2 and SLC26A4 Gene in A Chinese Family wi th Non-Syndromi c Deafness
10.3969/j.issn.1006-7299.2015.05.010
- VernacularTitle:一个非综合征型聋家系的分子病因学研究
- Author:
Zhiguo OUYANG
;
Jian JIN
;
Jiahai CHENG
- Publication Type:Journal Article
- Keywords:
GJB2 gene;
SLC26A4 gene;
Deafness family;
Non-syndromic hearing loss
- From:
Journal of Audiology and Speech Pathology
2015;(5):485-488
- CountryChina
- Language:Chinese
-
Abstract:
Objective To study the molecular pathogenesis of non -syndromic deafness in a Chinese family . Methods Clinical materials and DNA sample were obtained from the non -syndromic family with autosomal reces‐sive deafness .The exons and the flanking splicing sites of GJB2 and SLC26A4 were tested in all family members by PCR and direct sequencing .Results There were four deafness patients in the family ,and three of them had the same clinical phenotypes ,including prelingual profound sensorineural hearing loss and enlarged vestibular ,while the re‐mained one only presented to be prelingual profound sensorineural hearing loss without malformation of temporal bone .One type of GJB2 mutation and 3 different types of SLC26A4 mutations were identified in the family .The proband(Ⅲ -1) ,her sister(Ⅲ -2) ,her mother(Ⅱ -4) and her father(Ⅱ -3) carried different biallelic mutations which were SLC26A4 c .919 -2A > G/p .H723R ,p .Q413R/c .919 -2A > G ,p .Q413R/p .H723R and GJB2 c . 235delC/c .235delC ,respectively .Conclusion Different from most reported deafness families with the same molecu‐lar etiology in each one ,interestingly ,the pathogenies were different among all affected members in this family . They were caused by different biallelic mutations of SLC26A4 or GJB2 .
