CEP78 is mutated in a distinct type of Usher syndrome.

ABSTRACT:

Background

Usher syndrome is a genetically heterogeneous disorder featured by combined visual impairment and hearing loss. Despite a dozen of genes involved in Usher syndrome having been identified, the genetic basis remains unknown in 20-30% of patients. In this study, we aimed to identify the novel disease-causing gene of a distinct subtype of Usher syndrome.

Methods

Ophthalmic examinations and hearing tests were performed on patients with Usher syndrome in two consanguineous families. Target capture sequencing was initially performed to screen causative mutations in known retinal disease-causing loci. Whole exome sequencing (WES) and whole genome sequencing (WGS) were applied for identifying novel disease-causing genes. RT-PCR and Sanger sequencing were performed to evalu

SUBMITTER: Fu Q 

PROVIDER: S-EPMC6235689 | biostudies-literature | 2017 Mar

REPOSITORIES: biostudies-literature