Clinical features and gene analysis in a large Chinese family with large vestibular aqueduct syndrome
LI Wugao
YAN Tizhen
Zeng Dingyuan
TANG Ning
LI Zhetao
TANG Xiangrong
QIN Wenhua
LUO Shiqiang
YANG Yan
Abstract：Objective To report clinical and SLC26A4 assessment results of a large Chinese family with large vestibu-lar aqueduct syndrome (LVAS). Methods The family tree was drawn based on medical history and audiological findings. Gene microarray and Sanger sequencing were performed using the genome DNA of the probands and other patients. The se-quencing data were analyzed. Results There were 30 people (17 males and 13 females) in this family of 5 generations. Twenty-six were alive. There were 7 deaf patients in the fourth generation and 1 in the fifth generation. The clinical charac-teristics included pre- and post-lingual severe sensorineural hearing loss and enlarged vestibular aqueduct. A total of 4 known types of SLC26A4 mutations (c.754C>T, c.919-2A>G, c.1264-12T>A and c.1548_1549insC) were identified. Con-clusion Hearing loss in the eight patients in this family is probably caused by various biallelic mutations of the SLC26A4 gene. Etiology analysis can predict clinical therapies required in these patients and provide a basis for marriage and repro-duction counseling.
Keywords：Large vestibular aqueduct syndrome (LVAS)SLC26A4 geneGene microarraySanger sequencingGene mutationidentified in the large family
Publication Date：2016-01-01
Online Publishing Date：2025-08-15(First online date of this platform, not the publication date of the document)
Pages：6( 234-239 )