OTOF mutations revealed by genetic analysis of hearing loss families including a potential temperature sensitive auditory neuropathy allele.

ABSTRACT:

Introduction

The majority of hearing loss in children can be accounted for by genetic causes. Non-syndromic hearing loss accounts for 80% of genetic hearing loss in children, with mutations in DFNB1/GJB2 being by far the most common cause. Among the second tier genetic causes of hearing loss in children are mutations in the DFNB9/OTOF gene.

Methods

In total, 65 recessive non-syndromic hearing loss families were screened by genotyping for association with the DFNB9/OTOF gene. Families with genotypes consistent with linkage or uninformative for linkage to this gene region were further screened for mutations in the 48 known coding exons of otoferlin.

Results

Eight OTOF pathological variants were discovered in six families. Of these, Q829X was found in two families. We al

SUBMITTER: Varga R 

PROVIDER: S-EPMC2593030 | biostudies-literature | 2006 Jul

REPOSITORIES: biostudies-literature