Article
A newly identified mutation (c.2029 C > T) in SLC26A4 gene is associated with enlarged vestibular aqueducts in a Chinese family.
BMC medical genomics - 6 Mar 2022
Wu Ting, Cui Limei, Mou Yakui, Guo Wentao, Liu Dawei, Qiu Jingjing, Xu Cong, Zhou Jiamin, Han Fengchan, Sun Yan
Abstract excerpt
BACKGROUND: The enlarged vestibular aqueduct (EVA), associated with mutations in the SLC26A4 gene, characterized by non-syndromic hearing loss, is an autosomal recessive disorder. Here, we intended to investigate genetic causes of hearing loss in a Han Chinese man. METHOD: First, whole-exome sequencing was performed to identify the gene mutations responsible for hearing loss in the proband. Sanger sequencing was...
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