title: A splicing mutation of the tyrosinase gene causes yellow oculocutaneous albinism in a Japanese patient with a pigmented phenotype.
abstract: BACKGROUND
  Yellow oculocutaneous albinism (OCA) that is caused by tyrosinase gene mutations shows two characteristics: extreme hypopigmentation at birth and the eventual development of yellow or blond hair.
  
  
  OBJECTIVE
  We studied a Japanese girl who had brown hair, a lighter skin color than her unaffected family and brown eyes at 9 months of age.
  
  
  METHODS
  We performed direct sequencing analyses of the tyrosinase gene in her genomic DNA.
  
  
  RESULTS
  The patient was a compound heterozygote for the +DeltaC310 mutation (known to result in absent melanogenic activity) and a second t-->a transition at the 3' end of intron 2.
  
  
  CONCLUSIONS
  The t-->a transition has previously been reported as a splicing mutation in other Caucasian patients with a typical yellow OCA phenotype. However, this patient showed much more pigmentation than that reported in Caucasians. Therefore, we estimate that the mild phenotype results from her genetic pigment background.
authors.affiliation: Department of Dermatology, Akita University School of Medicine, Akita, Japan.
authors.forename: J
authors.initials: J
authors.lastname: Matsunaga
authors.forename: M
authors.initials: M
authors.lastname: Dakeishi-Hara
authors.forename: M
authors.initials: M
authors.lastname: Tanita
authors.forename: M
authors.initials: M
authors.lastname: Nindl
authors.forename: Y
authors.initials: Y
authors.lastname: Nagata
authors.forename: E
authors.initials: E
authors.lastname: Nakamura
authors.forename: Y
authors.initials: Y
authors.lastname: Miyamura
authors.forename: K
authors.initials: K
authors.lastname: Kikuchi
authors.forename: M
authors.initials: M
authors.lastname: Furue
authors.forename: Y
authors.initials: Y
authors.lastname: Tomita
mesh_terms: D016115:Albinism, Oculocutaneous / Q000235:genetics* / Q000473:pathology*; D017398:Alternative Splicing / Q000235:genetics*; D004252:DNA Mutational Analysis; D005260:Female; D005820:Genetic Testing; D005838:Genotype; D006579:Heterozygote; D006801:Humans; D007223:Infant; D007564:Japan; D008543:Melanins / Q000172:deficiency; D014442:Monophenol Monooxygenase / Q000235:genetics*; D009154:Mutation; D010641:Phenotype; D010858:Pigmentation / Q000235:genetics*; D017384:Sequence Deletion
chemical_list: D008543:Melanins; D014442:Monophenol Monooxygenase