Six novel P gene mutations and oculocutaneous albinism type 2 frequency in Japanese albino patients.
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.
Suzuki
Tamio
T
Department of Dermatology, Nagoya University Graduate School of Medicine, Japan. tasuzuki@med.nagoya-u.ac.jp
Miyamura
Yoshinori
Y
Matsunaga
Jun
J
Shimizu
Hiroshi
H
Kawachi
Yasuhiro
Y
Ohyama
Naoko
N
Ishikawa
Osamu
O
Ishikawa
Tomoyuki
T
Terao
Hiroshi
H
Tomita
Yasushi
Y
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
D002352:Carrier Proteins; D008565:Membrane Proteins; D026901:Membrane Transport Proteins; C489600:OCA2 protein, human; D021382:Protein Sorting Signals