中华耳科学杂志Issue(1)：68-71,4.DOI:10.3969/j.issn.1672-2922.2014.01.017
两个大前庭水管综合征家系的临床及SLC26A4基因的检测分析
Clinical and Molecular Diagnosis in Two Chinese Families with Enlargement of Vestibular Aqueduct
摘要
Abstract
Objective To elucidate the clinical diagnosis and molecular pathogenesis of LAVS in two Chinese families. Methods Clinical data and DNA samples were obtained from two LAVS families. The exons and flanking spliciding sites of SLC26A4 were screened in 6 hearing loss patients and 6 normal members in the two families by PCR and direct sequencing. Results There were 9 people and a fetus in the first family of a total of 3 generations. Among them only the third generation had 2 deafness patients. There were 14 people in the second family of a total of 3 generations. Among them the second genera-tion had 3 deafness patients and the third had one deafness patient. The clinical characteristics of patients in the two families included pre-and post-lingual sensorineural hearing loss, dysphonia and enlarged vestibular aqueduct. A total of 5 different types of SLC26A4 mutations were identified in the two families. Conclusions Hearing loss in the 6 patients of the two families are probably caused by different biallelic mutations of SLC26A4. The fetus in the first family appears to be a carrier. Enhanc-ing pre-pregnancy and prenatal screening of deafness gene is of great significance in preventing this kind of deafness in new-born children.关键词
前庭水管扩大/SLC26A4基因/听力损失/基因突变Key words
Enlarged vestibular aqueduct/SLC26A4 gene/Hearing loss/Mutation分类
医药卫生引用本文复制引用
田晓丽,崔书平,段乃超,马建刚,蒋新霞,黄爱萍,刘艳平,朱庆文..两个大前庭水管综合征家系的临床及SLC26A4基因的检测分析[J].中华耳科学杂志,2014,(1):68-71,4.基金项目
河北省自然科学基金面上项目（NOC2010000571）河北省医学适用技术跟踪项目 （）
