Comprehensive sequence analysis of nine Usher syndrome genes in the UK National Collaborative Usher Study.

ABSTRACT:

Background

Usher syndrome (USH) is an autosomal recessive disorder comprising retinitis pigmentosa, hearing loss and, in some cases, vestibular dysfunction. It is clinically and genetically heterogeneous with three distinctive clinical types (I-III) and nine Usher genes identified. This study is a comprehensive clinical and genetic analysis of 172 Usher patients and evaluates the contribution of digenic inheritance.

Methods

The genes MYO7A, USH1C, CDH23, PCDH15, USH1G, USH2A, GPR98, WHRN, CLRN1 and the candidate gene SLC4A7 were sequenced in 172 UK Usher patients, regardless of clinical type.

Results

No subject had definite mutations (nonsense, frameshift or consensus splice site mutations) in two different USH genes. Novel missense variants were classified UV1-4 (unc

SUBMITTER: Le Quesne Stabej P 

PROVIDER: S-EPMC3678402 | biostudies-literature | 2012 Jan

REPOSITORIES: biostudies-literature