Novel compound heterozygous mutations in SLC26A4 gene in a Chinese family with enlarged vestibular aqueduct.

This study demonstrates that the novel frameshift mutation c.574delC (p.Leu192Ter) in compound heterozygosity with c.919-2A>G in the SLC26A4 gene is the main cause of deafness in a family. Our study will expand the spectrum of known SLC26A4 mutations in the Chinese population, providing more information on genetic counseling, and diagnosis in hearing loss with EVA. PMID: 30473558 [PubMed - in process] (Source: BioScience Trends)

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