title: Type I oculocutaneous albinism associated with a full-length deletion of the tyrosinase gene.
abstract: Type I oculocutaneous albinism is an autosomal recessive disorder in which the biosynthesis of melanin is reduced or absent in skin, hair, and eyes because of deficient activity of tyrosinase (EC 1.14.18.1). Type I oculocutaneous albinism is caused by mutations in the tyrosinase structural gene, TYR; however, no large TYR gene deletions have been identified previously in humans. Here we report a patient with type IB oculocutaneous albinism who is a compound heterozygote for TYR allele containing a mutation that is likely to affect pre-RNA splicing and a paternally inherited allele in which the TYR gene is completely deleted, the first such allele described to date. Aside from the albinism in the proband, his phenotype and that of his normally pigmented father is otherwise normal, suggesting that this TYR deletion does not involve other functionally important contiguous genes.
authors.affiliation: Division of General Pediatrics, Children's Hospital of Philadelphia, Pennsylvania 19104, USA.
authors.forename: R E
authors.initials: RE
authors.lastname: Schnur
authors.forename: B T
authors.initials: BT
authors.lastname: Sellinger
authors.forename: S A
authors.initials: SA
authors.lastname: Holmes
authors.forename: P A
authors.initials: PA
authors.lastname: Wick
authors.forename: Y O
authors.initials: YO
authors.lastname: Tatsumura
authors.forename: R A
authors.initials: RA
authors.lastname: Spritz
mesh_terms: D016115:Albinism, Oculocutaneous / Q000235:genetics*; D015139:Blotting, Southern; D002648:Child; D002880:Chromosomes, Human, Pair 11; D017353:Gene Deletion; D006720:Homozygote; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D008297:Male; D014442:Monophenol Monooxygenase / Q000235:genetics*
chemical_list: D014442:Monophenol Monooxygenase