Novel C8orf37 mutations cause retinitis pigmentosa in consanguineous families of Pakistani origin.

ABSTRACT:

Purpose

To investigate the molecular basis of retinitis pigmentosa in two consanguineous families of Pakistani origin with multiple affected members.

Methods

Homozygosity mapping and Sanger sequencing of candidate genes were performed in one family while the other was analyzed with whole exome next-generation sequencing. A minigene splicing assay was used to confirm the splicing defects.

Results

In family MA48, a novel homozygous nucleotide substitution in C8orf37, c.244-2A>C, that disrupted the consensus splice acceptor site of exon 3 was found. The minigene splicing assay revealed that this mutation activated a cryptic splice site within exon 3, causing a 22 bp deletion in the transcript that is predicted to lead to a frameshift followed by premature protein truncat

SUBMITTER: Ravesh Z 

PROVIDER: S-EPMC4357040 | biostudies-literature | 2015

REPOSITORIES: biostudies-literature