Genetic testing for the enlarged vestibular aqueduct syndrome and mutation analysis of the SLC26A4 gene / 中国耳鼻咽喉头颈外科

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.