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    J Invest Dermatol. 2003 May;120(5):781-3.

    Six novel P gene mutations and oculocutaneous albinism type 2 frequency in Japanese albino patients.

    Suzuki T, Miyamura Y, Matsunaga J, Shimizu H, Kawachi Y, Ohyama N, Ishikawa O, Ishikawa T, Terao H, Tomita Y.

    Department of Dermatology, Nagoya University Graduate School of Medicine, Japan. tasuzuki@med.nagoya-u.ac.jp

    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.

    PMID: 12713581 [PubMed - indexed for MEDLINE]

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