Phenotype of Usher syndrome type II assosiated with compound missense mutations of c.721 C>T and c.1969 C>T in MYO7A in a Chinese Usher syndrome family.

ABSTRACT:

Aim

To identify the pathogenic mutations in a Chinese pedigree affected with Usher syndrome type II (USH2).

Methods

The ophthalmic examinations and audiometric tests were performed to ascertain the phenotype of the family. To detect the genetic defect, exons of 103 known RDs -associated genes including 12 Usher syndrome (USH) genes of the proband were captured and sequencing analysis was performed to exclude known genetic defects and find potential pathogenic mutations. Subsequently, candidate mutations were validated in his pedigree and 100 normal controls using polymerase chain reaction (PCR) and Sanger sequencing.

Results

The patient in the family occurred hearing loss (HL) and retinitis pigmentosa (RP) without vestibular dysfunction, which were consistent with sta

SUBMITTER: Zhai W 

PROVIDER: S-EPMC4539639 | biostudies-literature | 2015

REPOSITORIES: biostudies-literature