title: Six novel P gene mutations and oculocutaneous albinism type 2 frequency in Japanese albino patients.
abstract: Type 2 oculocutaneous albinism (OCA2) is an autosomal recessive disorder that results from mutations in the P gene that codes one of the melanosomal proteins, the function of which remains unknown. In this paper, we report the frequency of OCA2, 8%, among the Japanese albino population, six novel mutations containing four missense substitutions (P198L, P211L, R10W, M398I), and two splice site mutations (IVS15+1 G>A, IVS24-1 G>C). One of them, R10W, was within the putative signal peptide at the N-terminal of the P protein. This is the first report on the frequency of OCA2 in the Japanese albino population.
authors.affiliation: Department of Dermatology, Nagoya University Graduate School of Medicine, Japan. tasuzuki@med.nagoya-u.ac.jp
authors.forename: Tamio
authors.initials: T
authors.lastname: Suzuki
authors.forename: Yoshinori
authors.initials: Y
authors.lastname: Miyamura
authors.forename: Jun
authors.initials: J
authors.lastname: Matsunaga
authors.forename: Hiroshi
authors.initials: H
authors.lastname: Shimizu
authors.forename: Yasuhiro
authors.initials: Y
authors.lastname: Kawachi
authors.forename: Naoko
authors.initials: N
authors.lastname: Ohyama
authors.forename: Osamu
authors.initials: O
authors.lastname: Ishikawa
authors.forename: Tomoyuki
authors.initials: T
authors.lastname: Ishikawa
authors.forename: Hiroshi
authors.initials: H
authors.lastname: Terao
authors.forename: Yasushi
authors.initials: Y
authors.lastname: Tomita
mesh_terms: D000328:Adult; D000417:Albinism / Q000235:genetics*; D016115:Albinism, Oculocutaneous / Q000453:epidemiology / Q000235:genetics*; D002352:Carrier Proteins / Q000235:genetics*; D006801:Humans; D007564:Japan; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D026901:Membrane Transport Proteins; D009154:Mutation; D020125:Mutation, Missense; D010641:Phenotype; D011110:Polymorphism, Genetic; D018807:Polymorphism, Single-Stranded Conformational; D021382:Protein Sorting Signals
chemical_list: D002352:Carrier Proteins; D008565:Membrane Proteins; D026901:Membrane Transport Proteins; C489600:OCA2 protein, human; D021382:Protein Sorting Signals