title: Autosomal recessive retinal dystrophy associated with two novel mutations in the RPE65 gene.
abstract: Retinal dystrophies are a complex set of hereditary diseases of the retina that result in the degeneration of photoreceptors. Recent studies have shown that mutations in RPE65, a gene that codes for a retinal pigment epithelium (RPE)-specific protein thought to be involved in the 11-cis-retinoid metabolism, a key process in vision, cause severe, early onset retinal dystrophy. We describe two novel missense RPE65 mutations, L22P and H68Y, in a compound heterozygote with autosomal recessive retinal dystrophy. The relatively mild phenotype associated with these mutations suggests a possible link between the severity of the disease and the type of mutations in the RPE65 gene.
authors.affiliation: Laboratoire de Neurobiologie de l'Audition, Plasticité Synaptique, Hôpital Gui de Chauliac, Montpellier, France.
authors.forename: F
authors.initials: F
authors.lastname: Marlhens
authors.forename: J M
authors.initials: JM
authors.lastname: Griffoin
authors.forename: C
authors.initials: C
authors.lastname: Bareil
authors.forename: B
authors.initials: B
authors.lastname: Arnaud
authors.forename: M
authors.initials: M
authors.lastname: Claustres
authors.forename: C P
authors.initials: CP
authors.lastname: Hamel
mesh_terms: D000595:Amino Acid Sequence; D019943:Amino Acid Substitution; D001483:Base Sequence; D002352:Carrier Proteins; D004247:DNA; D005136:Eye Proteins / Q000235:genetics*; D005260:Female; D005808:Genes, Recessive; D006579:Heterozygote; D006801:Humans; D008297:Male; D009154:Mutation; D010375:Pedigree; D010857:Pigment Epithelium of Eye / Q000378:metabolism*; D011506:Proteins; D012164:Retinal Diseases / Q000235:genetics*; D019745:cis-trans-Isomerases; D000099178:Retinoid Isomerohydrolase
chemical_list: D002352:Carrier Proteins; D004247:DNA; D005136:Eye Proteins; D011506:Proteins; D019745:cis-trans-Isomerases; D000099178:Retinoid Isomerohydrolase