Low prevalence of lecithin retinol acyltransferase mutations in patients with Leber congenital amaurosis and autosomal recessive retinitis pigmentosa.
OBJECTIVE
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.
Sweeney
Meredith O
MO
Ocular Molecular Genetics Institute and the Berman-Gund Laboratory for the Study of Retinal Degenerations, Harvard Medical School, Massachusetts Eye and Ear Infirmary, Boston, MA 02114, USA.
McGee
Terri L
TL
Berson
Eliot L
EL
Dryja
Thaddeus P
TP
D000217:Acyltransferases / Q000235:genetics*; D001766:Blindness / Q000209:etiology / Q000235:genetics*; D005787:Gene Frequency; D005808:Genes, Recessive; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D009154:Mutation; D029242:Optic Atrophy, Hereditary, Leber / Q000150:complications / Q000235:genetics*; D012174:Retinitis Pigmentosa / Q000235:genetics*
D000217:Acyltransferases; C056942:lecithin-retinol acyltransferase