The ADAMTS18 gene is responsible for autosomal recessive early onset severe retinal dystrophy.

ABSTRACT:

Background

Inherited retinal dystrophies, including Retinitis Pigmentosa and Leber Congenital Amaurosis among others, are a group of genetically heterogeneous disorders that lead to variable degrees of visual deficits. They can be caused by mutations in over 100 genes and there is evidence for the presence of as yet unidentified genes in a significant proportion of patients. We aimed at identifying a novel gene for an autosomal recessive form of early onset severe retinal dystrophy in a patient carrying no previously described mutations in known genes.

Methods

An integrated strategy including homozygosity mapping and whole exome sequencing was used to identify the responsible mutation. Functional tests were performed in the medaka fish (Oryzias latipes) model organism to gai

SUBMITTER: Peluso I 

PROVIDER: S-EPMC3568033 | biostudies-literature | 2013 Jan

REPOSITORIES: biostudies-literature