Work

Low prevalence of lecithin retinol acyltransferase mutations in patients with Leber congenital amaurosis and autosomal recessive retinitis pigmentosa.

Year: 2007

Type: article

Abstract: PURPOSE: To determine the the prevalence of pathogenic mutations in the gene encoding lecithin retinol acyltransferase (LRAT) in patients from North America with either Leber congenital amaurosis (LCA) or autosomal recessive retinitis pigmentosa (ARRP). METHODS: Exon 1, exon 2, and the coding region of exon 3 of LRAT were PCR-amplified and directly sequenced from the leukocyte DNA of 82 unrelated patients with LCA and 190 unrelated patients with ARRP. RESULTS: One isocoding change was found in this screen of LRAT (Glu114 GAG>GAA; c.342), and 5 other sequence changes were found in intronic or untranslated regions of the gene. None of these changes were predicted to affect the encoded protein and were therefore deemed non-pathogenic. CONCLUSIONS: LRAT mutations are likely a rare cause of LCA among patients from North America.

Source: PubMed Central

Authors: Meredith O Sweeney, Terri L McGee, Eliot L Berson, Thaddeus P Dryja

Institutions: Massachusetts Eye and Ear Infirmary, Harvard University

Language: English

Topic: Retinal Development and Disorders

Subfield: Ophthalmology

Field: Medicine

Domain: Health Sciences

SDG: Good health and well-being

Open Access status: green

Funder: National Eye Institute

Awards: CANDIDATE GENE STUDY OF INHERITED RETINAL DEGENERATIONS, ELECTROPHYSIOLOGICAL STUDIES OF RETINAL DEGENERATIONS, Electrophysiological Studies of Retinal Degenerations, P30 Core Grant for Vision Research