<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>