A Mutation Analysis of GJB2 and SLC26A4 Gene in A Chinese Family wi th Non-Syndromi c Deafness / 听力学及言语疾病杂志

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 .