title: Mutation analysis of the tyrosinase gene in oculocutaneous albinism.
abstract: Type I oculocutaneous albinism (OCA) is an autosomal recessive disorder caused by the reduction or the absence of tyrosinase (TYR) activity in melanocytes of the skin, hair and eyes. Here we report an analysis of 45 patients with OCA. We found five novel mutations in the tyrosinase gene involved in the pathogenesis of oculocutaneous albinism type IA or type IB (OCA-1A/B) in five unrelated patients. Three mutations are missense mutations (G109R, P205T and H256Y) and two are nucleotide deletions (336-337delCA and 678-680delAGG). One patient is homozygous for the previously known V275F mutation but has an extremely mild OCA phenotype and has no eye features typical of OCA. In several patients we discovered only one or even no mutation in the coding sequence of the TYR gene. Thus, this disease may also result from mutations in non coding regions of the gene or in another gene involved in the biosynthesis of melanin. Hum Mutat 17:352, 2001.
authors: Centre Hospitalier Régional et Universitaire Ponchaillou, Rennes, France.
authors: O
authors: O
authors: Camand
authors: D
authors: D
authors: Marchant
authors: S
authors: S
authors: Boutboul
authors: M
authors: M
authors: Péquignot
authors: S
authors: S
authors: Odent
authors: H
authors: H
authors: Dollfus
authors: J
authors: J
authors: Sutherland
authors: A
authors: A
authors: Levin
authors: M
authors: M
authors: Menasche
authors: C
authors: C
authors: Marsac
authors: J L
authors: JL
authors: Dufier
authors: E
authors: E
authors: Heon
authors: M
authors: M
authors: Abitbol
mesh_terms: D000417:Albinism / Q000145:classification / Q000201:enzymology* / Q000235:genetics*; D000818:Animals; D004252:DNA Mutational Analysis; D005091:Exons / Q000235:genetics; D005260:Female; D005808:Genes, Recessive / Q000235:genetics; D006579:Heterozygote; D006801:Humans; D008297:Male; D008543:Melanins / Q000096:biosynthesis / Q000235:genetics; D014442:Monophenol Monooxygenase / Q000235:genetics*; D009154:Mutation / Q000235:genetics*; D020125:Mutation, Missense / Q000235:genetics; D010375:Pedigree; D012150:Polymorphism, Restriction Fragment Length
chemical_list: D008543:Melanins; D014442:Monophenol Monooxygenase