SLC26A4 mutations in a Chinese deafness family discovered by next-generation sequencing technology / 中华耳鼻咽喉头颈外科杂志

ABSTRACT

<p><b>OBJECTIVE</b>To identify the molecular etiopathogenesis for a non-syndromic hearing loss patient.</p><p><b>METHODS</b>The core family, consists of the patient and his parents, was recruited. Genomic DNA was extracted from peripheral blood. Mutation analysis was carried out by SNaPshot and next-generation sequencing technology. Mutations in SLC26A4 gene were verified by polymerase chain reaction and direct sequencing.</p><p><b>RESULTS</b>Compound heterozygous mutations p.V306GfsX24 and p.P516PfsX11 in SLC26A4 gene were detected in the patient, heterozygous mutation p.V306GfsX24 was detected in the father, heterozygous mutation p.P516PfsX11 was detected in the mother.</p><p><b>CONCLUSIONS</b>Compound heterozygous mutations p.V306GfsX24 and p.P516PfsX11 contributed to patient's hearing loss. Next-generation sequencing technology is a useful tool for detecting de novo mutations of deafness genes, and is suitable for clinical application.</p>