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Updated Analysis of Albinism in Japan: 290 Families With Novel Pathological Variants.

Pigment cell & melanoma research - 1 Nov 2025

Okamura Ken, Saito Toru, Oiso Naoki, Sekiguchi Akiko, Motegi Sei-Ichiro, Hara Yoshiaki, Komine Mayumi, Kudo Kyoko, Noguchi Atsushi, Oshimo Tomoko, Shibuya Mami, Miyano Kyohei, Hoshina Takayuki, Itokawa Mari, Masui Yuri, Otaki Kaoru, Hozumi Yutaka, Suzuki Tamio

Abstract excerpt

We present an updated analysis of albinism in Japan, encompassing both oculocutaneous albinism (OCA) and ocular albinism (OA), based on 290 families, which expands our previous study by 100 additional families. The overall frequency distribution of major subtypes remained consistent with our previous findings: OCA4 remains the most prevalent subtype (67 patients, 23.1%), followed by OCA1 (57 patients, 19.7%),...

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Identifiers

PMID: 41292147
DOI: 10.1111/pcmr.70066

Genes

HPS3
HPS5
HPS6
OCA2

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