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Article

A novel SLC26A4 splicing mutation identified in two deaf Chinese twin sisters with enlarged vestibular aqueducts.

Molecular genetics & genomic medicine - 1 Oct 2020

Zhou Kai, Huang Lancheng, Feng Menglong, Li Xinlei, Zhao Yi, Liu Fei, Wei Jiazhang, Qin Danxue, Lu Qiutian, Shi Min, Qu Shenhong, Tang Fengzhu

Abstract excerpt

BACKGROUND: Variants in the SLC26A4 gene are correlated with nonsyndromic hearing loss with an enlarged vestibular aqueduct (EVA). This study aimed to identify the genetic causes in a Chinese family with EVA, and the pathogenicity of the detected variants. METHODS: We collected blood samples and clinical data from a pair of deaf twin sisters with EVA and their family members. As controls, a group of 500...

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PMID: 32770655
DOI: 10.1002/mgg3.1447
PMCID: PMC7549568

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