中国听力语言康复科学杂志Issue(3)：195-197,3.DOI:10.3969/j.issn.1672-4933.2015.03.008
3个大前庭水管综合征家系的SLC26A4致病位点分析
A Pathogenesis Analysis of SLC26A4 Gene Mutations in 3 Families Associated with Large Vestibular Aqueduct Syndrome
摘要
Abstract
Objective To sequence and analyze the pathogenesis of the mutation of SLC26A4 gene in 3 families of LVAS.Methods Blood samples and clinical data of 3 families of LVAS were collected. A pathogenesis analysis was conducted on the rare genemutation in the families using online software. Using a process of elimination to prove that c.2343+69C>A is benign.Results We detected five SLC26A4 gene mutations from 3 families, and confirmed that four mutations out of them are pathogenic.The genotypes of IVS7-2A>G/c.1594A>C, IVS7-2A>G/c.1327G>C, IVS7-2A>G/c.1667A>G are the probands. The genotypes of c.1594A>C/c.2343+69C>A,c.1327G>C/c.2343+69C>A, c.1667A>G/c.2343+69C>A case have normal hearing.Conclusion According to our results, SLC26A4 c.2343+69C>A is not likely to be a pathogenic mutation.If the parents of any proband of these three families want to rebirth, the newborn might have 25 percent chance to be with EVAS as the proband.关键词
大前庭水管综合征/SLC26A4/c.2343+69C>A/致病性Key words
LVAS/SLC26A4/c.2343+69C>A/Pathogenesis引用本文复制引用
王淑娟,梁鹏飞,王剑,陈阳,查定军,邱建华..3个大前庭水管综合征家系的SLC26A4致病位点分析[J].中国听力语言康复科学杂志,2015,(3):195-197,3.基金项目
国家自然科学基因（81300832）；国家“973”项目课题 （）
