title: Oculocutaneous albinism type 3: a Japanese girl with novel mutations in TYRP1 gene.
abstract: BACKGROUND
  Oculocutaneous albinism (OCA) type 3 caused by mutations of the TYRP1 gene is an autosomal recessive disorder of pigmentation characterized by reduced biosynthesis of melanin pigment in the skin, hair, and eye. The clinical phenotype has been reported as mild in Caucasian OCA3 patients.
  
  
  OBJECTIVE
  We had the opportunity to examine a Japanese girl with OCA3 and investigated activity of TYRP1 protein derived from the mutant allele detected in the patient.
  
  
  METHODS
  Mutation search for OCA responsible genes was done. A mutant allele with a missense mutation was analyzed using melanocyte cultures (b cells) established from a mouse model of OCA3.
  
  
  RESULTS
  Compound heterozygous mutations, p.C30R and p.367fsX384, were detected in the Japanese girl. Then we revealed that the missense mutation, p.C30R, was functionally incapable of melanin synthesis with in vitro experiments.
  
  
  CONCLUSIONS
  This is the first report of the occurrence of OCA3 in Japanese population.
authors: Department of Dermatology, Yamagata University School of Medicine, Yamagata, Japan.
authors: Makiko
authors: M
authors: Yamada
authors: Keisuke
authors: K
authors: Sakai
authors: Masahiro
authors: M
authors: Hayashi
authors: Yutaka
authors: Y
authors: Hozumi
authors: Yuko
authors: Y
authors: Abe
authors: Masakazu
authors: M
authors: Kawaguchi
authors: Hironobu
authors: H
authors: Ihn
authors: Tamio
authors: T
authors: Suzuki
mesh_terms: D016115:Albinism, Oculocutaneous / Q000201:enzymology / Q000208:ethnology / Q000235:genetics*; D000818:Animals; D044466:Asian People / Q000235:genetics*; D002478:Cells, Cultured; D005260:Female; D020022:Genetic Predisposition to Disease; D006579:Heterozygote; D006801:Humans; D007223:Infant; D007564:Japan; D008543:Melanins / Q000378:metabolism*; D008544:Melanocytes / Q000201:enzymology*; D008562:Membrane Glycoproteins / Q000235:genetics* / Q000378:metabolism; D051379:Mice; D020125:Mutation, Missense; D010088:Oxidoreductases / Q000235:genetics* / Q000378:metabolism; D010641:Phenotype; D012880:Skin Pigmentation / Q000235:genetics*; D014162:Transfection
chemical_list: D008543:Melanins; D008562:Membrane Glycoproteins; D010088:Oxidoreductases; C489799:TYRP1 protein, human