Clinical Analysis And Genetic Detection In 4 Cases Of Large Vesticular Aquedeuct Syndrome

Objective:To analize the clinical characteristic of Large Vestibular Aqeuduct Syndrome(LVAS),and to understand the molecular mechanism by detecting the gene mutation of SLC26A4 which is common gene in the patients with LVAS.Materials and Methods:Clinical analysis on the patients with LVAS in Department of Otolaryngology-Head and Neck Surgery,2^ndXiangya Hospital of Central South University,from December,2005 to May,2008.Also,the gene mutations in exon 3,5,8,13,15,20,21 of SLC26A4 were detected in 4 cases with LVAS by Polymerase Chain Reaction(PCR).Results:4 cases with LVAS had prefound sensrineural hearing loss by ABR and other hearing tests,and large vestibular aqueduct by CT scanning and MRI of temporal bone.Sequence analysis showed that a gene mutation of SLC26A4 was found in one case,in which A to G substitution was detected at nucleotid 429 in exon 5 of SLC26A4 gene.This mutation caused M147 within a region of SLC26A4 protein, the international reports on the types of mutations.Cochlear implant(CI)was successfully performed in all cases.Conclusions:LVAS can be diagnosed by clinical characteristics,CT scanning or MRI of temporal bone,and gene mutation detection.A to G substitution was detected at nucleotide 429 in exon 5 of SLC26A4,which caused M147V within a region of SLC26A4 protein.Hearing recovery in the patients with LVAS is possible by cochlear implant.