title: Four novel mutations in the RPE65 gene in patients with Leber congenital amaurosis.
abstract: Leber congenital amaurosis (LCArpar; is a heterogeneous disorder representing the congenital forms of retinitis pigmentosa accounting for about 5% of all retinal dystrophies. The RPE65 gene product is required for regeneration of the visual pigment for phototransduction. Defects in the RPE65 gene have so far been shown to account for approximately 10 % of known cases of LCA. Here we describe four additional novel mutations in the RPE65 gene (c.889delA, c.131G>A, c.1249G>C, c.430T>G) and several novel polymorphisms in a large series of LCA patients. Hum Mutat 18:164, 2001.
authors.affiliation: Department of Biochemistry & Molecular Biology, University of South Alabama College of Medicine, Mobile, AL, USA.
authors.forename: M J
authors.initials: MJ
authors.lastname: Simovich
authors.forename: B
authors.initials: B
authors.lastname: Miller
authors.forename: H
authors.initials: H
authors.lastname: Ezzeldin
authors.forename: B T
authors.initials: BT
authors.lastname: Kirkland
authors.forename: G
authors.initials: G
authors.lastname: McLeod
authors.forename: C
authors.initials: C
authors.lastname: Fulmer
authors.forename: J
authors.initials: J
authors.lastname: Nathans
authors.forename: S G
authors.initials: SG
authors.lastname: Jacobson
authors.forename: S J
authors.initials: SJ
authors.lastname: Pittler
mesh_terms: D002352:Carrier Proteins; D004252:DNA Mutational Analysis; D005091:Exons / Q000235:genetics; D005136:Eye Proteins; D005838:Genotype; D006801:Humans; D007438:Introns / Q000235:genetics; D008969:Molecular Sequence Data; D009154:Mutation / Q000235:genetics*; D029242:Optic Atrophy, Hereditary, Leber / Q000235:genetics*; D011110:Polymorphism, Genetic / Q000235:genetics*; D011506:Proteins / Q000235:genetics*; D012174:Retinitis Pigmentosa / Q000151:congenital / Q000235:genetics*; D019745:cis-trans-Isomerases; D000099178:Retinoid Isomerohydrolase
chemical_list: D002352:Carrier Proteins; D005136:Eye Proteins; D011506:Proteins; D019745:cis-trans-Isomerases; D000099178:Retinoid Isomerohydrolase