Clinical and Molecular Diagnosis in Two Chinese Families with Enlargement of Vestibular Aqueduct
TIAN Xiaoli
CUI Shuping
DUAN Naichao
MA Jiangang
JIANG Xinxia
HUANG Aiping
LIU Yanping
ZHU Qingwen
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.
Keywords：Enlarged vestibular aqueductSLC26A4 geneHearing lossMutation
Publication Date：2014-01-01
Online Publishing Date：2025-08-15(First online date of this platform, not the publication date of the document)
Pages：4( 68-71 )