High prevalence of CDH23 mutations in patients with congenital high-frequency sporadic or recessively inherited hearing loss.

ABSTRACT:

Background

Mutations in CDH23 are responsible for Usher syndrome 1D and recessive non-syndromic hearing loss. In this study, we revealed the prevalence of CDH23 mutations among patients with specific clinical characteristics.

Methods

After excluding patients with GJB2 mutations and mitochondrial m.1555A > G and m.3243A > G mutations, subjects for CDH23 mutation analysis were selected according to the following criteria: 1) Sporadic or recessively inherited hearing loss 2) bilateral non-syndromic congenital hearing loss, 3) no cochlear malformation, 4) a poorer hearing level at high frequencies than at low frequencies, and 5) severe or profound hearing loss at higher frequencies.

Results

Seventy-two subjects were selected from 621 consecutive probands who did not have

SUBMITTER: Mizutari K 

PROVIDER: S-EPMC4451718 | biostudies-literature | 2015 May

REPOSITORIES: biostudies-literature