Genetic testing for the enlarged vestibular aqueduct syndrome and mutation analysis of the SLC26A4 gene
- VernacularTitle:大前庭水管综合征的基因诊断和SLC26A4基因突变分析
- Author:
Pu DAI
;
Dongyi HAN
;
Bo FENG
;
Dongyang KANG
;
Xin LIU
;
Huijun YUAN
;
Juyang CAO
;
Xin ZHANG
;
Suoqiang ZHAI
;
Weiyan YANG
;
Bailin WU
- Publication Type:Journal Article
- Keywords: Vestibular Aqueduct; Genes; Mutation
- From: Chinese Archives of Otolaryngology-Head and Neck Surgery 2006;0(05):-
- CountryChina
- Language:Chinese
- Abstract: T,and 916-917 ins G were SLC26A4 mutations unreported hitherto, which may be specific to the Chinese population. CONCLUSION The EVA syndrome is a typical autosomal recessivehereditary disease caused by mutations in SLC26A4 gene. Genetic testing of SLC26A4 is the one of the important diagnostic methods for EVA syndrome.