Novel compound heterozygous mutations in MYO7A in a Chinese family with Usher syndrome type 1.

ABSTRACT:

Purpose

To identify the disease-causing mutation(s) in a Chinese family with autosomal recessive Usher syndrome type 1 (USH1).

Methods

An ophthalmic examination and an audiometric test were conducted to ascertain the phenotype of two affected siblings. The microsatellite marker D11S937, which is close to the candidate gene MYO7A (USH1B locus), was selected for genotyping. From the DNA of the proband, all coding exons and exon-intron boundaries of MYO7A were sequenced to identify the disease-causing mutation(s). Restriction fragment length polymorphism (RFLP) analysis was performed to exclude the alternative conclusion that the mutations are non-pathogenic rare polymorphisms.

Results

Based on severe hearing impairment, unintelligible speech, and retinitis pigmentosa, a

SUBMITTER: Liu F 

PROVIDER: S-EPMC3611938 | biostudies-literature | 2013

REPOSITORIES: biostudies-literature