Recent advances in genetic analyses of oculocutaneous albinism types 2 and 4

Summary Patients with OCA are characterized by reduced skin and hair pigmentation and consequent photosensitivity, actinic damage and risk of skin cancer, and by reduced visual acuity and nystagmus. Our survey of Japanese patients revealed that OCA1 was the most frequent type at 34%, while type 2 wa...

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Bibliographic Details
Published in:Journal of dermatological science 2008-07, Vol.51 (1), p.1-9
Main Authors: Suzuki, Tamio, Tomita, Yasushi
Format: Article
Language:English
Subjects:
Albinism, Oculocutaneous - epidemiology
Albinism, Oculocutaneous - genetics
Antigens, Neoplasm - genetics
Asian Continental Ancestry Group - genetics
Dermatology
Gene analysis
Humans
Japan - epidemiology
Japanese
Melanin
Membrane Transport Proteins - genetics
Oculocutaneous albinism
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Summary:Summary Patients with OCA are characterized by reduced skin and hair pigmentation and consequent photosensitivity, actinic damage and risk of skin cancer, and by reduced visual acuity and nystagmus. Our survey of Japanese patients revealed that OCA1 was the most frequent type at 34%, while type 2 was present at less than 10%. OCA3 was absent. OCA4, which is a rare type worldwide, was the second most frequent type at 27%. Unexpectedly 10% of the patients turned out to be Hermansky–Pudlak syndrome type 1. Furthermore, the pathogenic p.A481T allele for OCA2, which has 70% melanogenesis activity, was found in approximately 12% of normally pigmented people, indicating that sub-clinical OCA2 might be more frequent in the Japanese than currently thought. And OCA4 is one of the most common types in Japanese patients, despite being rare worldwide.
ISSN:0923-1811
1873-569X
DOI:10.1016/j.jdermsci.2007.12.008