Six novel P gene mutations and oculocutaneous albi...[J Invest Dermatol. 2003]

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

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]

A novel P gene missense mutation in a Japanese patient with oculocutaneous albinism type II (OCA2). [J Dermatol Sci. 2003]
Identification of P gene mutations in individuals with oculocutaneous albinism in sub-Saharan Africa. [Hum Mutat. 2000]
Mutations of the P gene in oculocutaneous albinism, ocular albinism, and Prader-Willi syndrome plus albinism. [N Engl J Med. 1994]
ReviewThe mouse p (pink-eyed dilution) and human P genes, oculocutaneous albinism type 2 (OCA2), and melanosomal pH. [Pigment Cell Res. 2001]
ReviewRecent advances in genetic analyses of oculocutaneous albinism types 2 and 4. [J Dermatol Sci. 2008]

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

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