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Updated: Sep 26, 2026
Measuring Connectivity in the Primary Visual Pathway in Human Albinism Using Diffusion Tensor Imaging and Tractography
Published on: August 11, 2016
Six novel P gene mutations and oculocutaneous albinism type 2 frequency in Japanese albino patients
Tamio Suzuki1, Yoshinori Miyamura, Jun Matsunaga
1Department of Dermatology, Nagoya University Graduate School of Medicine, Japan. tasuzuki@med.nagoya-u.ac.jp
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.
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