Identification of a novel splice-site mutation in the Lebercilin (LCA5) gene causing Leber congenital amaurosis.

ABSTRACT:

Purpose

Leber congenital amaurosis (LCA) is one of the most common causes of hereditary blindness in infants. To date, mutations in 13 known genes and at two other loci have been implicated in LCA causation. An examination of the known genes highlights several processes which, when defective, cause LCA, including photoreceptor development and maintenance, phototransduction, vitamin A metabolism, and protein trafficking. In addition, it has been known for some time that defects in sensory cilia can cause syndromes involving hereditary blindness. More recently evidence has come to light that non-syndromic LCA can also be a "ciliopathy."

Methods

Here we present a homozygosity mapping analysis in a consanguineous sibship that led to the identification of a mutation in the recent

SUBMITTER: Ramprasad VL 

PROVIDER: S-EPMC2268850 | biostudies-literature | 2008 Mar

REPOSITORIES: biostudies-literature