Identifcation of a novel missense eya4 mutation causing autosomal dominant non-syndromic hearing loss in a Chinese family

Abstract

The aim of this study was to identify the novel missense eya4 mutation which cause autosomal dominant non syndromic hearing loss In a Chinesefamily. Hearing loss is the most common sensory defcit in humans, but the middle-frequency sensorineural hearing loss (MFSNHL) is rare among hereditary nonsyndromic hearing loss, and EYA4 is one of the genes reported to be associated with MFSNHL. A genetic analysis of a Chinese family with autosomal dominantnon-syndromic progressive hearing impairment was conducted and assessed. Targeted exome sequencing, conducted using DNA samples of an affected memberin this family, revealed a novel heterozygous missense mutation c.1855T>G in exon 20 of EYA4, causing amino-acid (aa) substitution Gly for Trp at a conservedposition aa-619. The p.W619G mutation related to hearing loss in this Chinese family was validated by Sanger sequencing. Bioinformatic analysis confrmed thepathogenic effects of this mutation. We identifed the novel missense mutation c.1855T>G (p.W619G) in EYA4 causing autosomal dominant non-syndromic hearing impairment in the selected Chinese family.