Targeted next-generation sequencing extends the phenotypic and mutational spectrums for EYS mutations.

ABSTRACT:

Purpose

We aim to determine genetic lesions with a phenotypic correlation in four Chinese families with autosomal recessive retinitis pigmentosa (RP).

Methods

Medical histories were carefully reviewed. All patients received comprehensive ophthalmic evaluations. The next-generation sequencing (NGS) approach targeting a panel of 205 retinal disease-relevant genes and 15 candidate genes was selectively performed on probands from the four recruited families for mutation detection. Online predictive software and crystal structure modeling were also applied to test the potential pathogenic effects of identified mutations.

Results

Of the four families, two were diagnosed with RP sino pigmento (RPSP). Patients with RPSP claimed to have earlier RP age of onset but slower disea

SUBMITTER: Gu S 

PROVIDER: S-EPMC4911908 | biostudies-literature | 2016

REPOSITORIES: biostudies-literature