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

Journal of Dermatological Science
Tamio Suzuki, Yasushi Tomita

Abstract

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.

References

Dec 6, 1994·Proceedings of the National Academy of Sciences of the United States of America·S RosemblatS J Orlow
Sep 21, 2000·The Journal of Investigative Dermatology·N PuriM H Brilliant
Jun 12, 2002·Molecular Biology of the Cell·Kun ChenSeth J Orlow
Dec 12, 2002·Molecular Biology of the Cell·Liliana StalevaSeth J Orlow
Apr 11, 2003·American Journal of Medical Genetics. Part a·Tamio SuzukiYasushi Tomita
Apr 26, 2003·The Journal of Investigative Dermatology·Tamio SuzukiYasushi Tomita
May 20, 2003·Pigment Cell Research·William S OettingRichard A King
Jan 15, 2004·Human Mutation·Uta RundshagenBarbara Käsmann-Kellner
Feb 13, 2004·American Journal of Human Genetics·Katsuhiko InagakiYasushi Tomita
Sep 24, 2004·Journal of Dermatological Science·Maki GotoHiroshi Shimizu
Sep 29, 2004·American Journal of Medical Genetics. Part C, Seminars in Medical Genetics·Yasushi Tomita, Tamio Suzuki
Jun 9, 2005·Dermatology : International Journal for Clinical and Investigative Dermatology·Masahiro KawaiYasushi Tomita
Jul 6, 2005·Clinical Genetics·T ForshewE R Maher
Sep 16, 2005·Pigment Cell Research·Katsuhiko InagakiYasushi Tomita
Oct 18, 2005·The British Journal of Dermatology·A Y K Chan, D T L Liu
May 18, 2006·Pigment Cell Research·Caroline RooryckBenoît Arveiler
Sep 30, 2006·Journal of Dermatological Science·Shiro ItoNarutaka Mochizuki

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Citations

Nov 2, 2011·Japanese Journal of Ophthalmology·Shin Hae ParkMyungshin Kim
Feb 18, 2009·Pigment Cell & Melanoma Research·Takayuki KonnoTamio Suzuki
Aug 24, 2010·Pigment Cell & Melanoma Research·Shosuke Ito, Kazumasa Wakamatsu
Feb 2, 2012·Molecular Medicine Reports·Jung Min KoHyon-Ju Kim
Jan 28, 2014·Journal of Dermatological Science·Ken OkamuraTamio Suzuki
Jan 13, 2015·Genetics Research·Ning LiuMiao Jiang
Nov 18, 2015·Journal of Dermatological Science·Ken OkamuraTamio Suzuki
Mar 20, 2013·Molecular Aspects of Medicine·Olga Vitavska, Helmut Wieczorek
Oct 15, 2011·Journal of Dermatological Science·Makiko YamadaTamio Suzuki
Jul 18, 2009·American Journal of Medical Genetics. Part a·Takayuki KonnoTamio Suzuki
Jun 18, 2009·American Journal of Medical Genetics. Part a·Pei-Wen ChiangAngela Scheuerle
Nov 15, 2011·Journal of the European Academy of Dermatology and Venereology : JEADV·S Ito, K Wakamatsu
Sep 19, 2012·American Journal of Medical Genetics. Part a·Judith M A VerhagenAlice S Brooks
Jun 8, 2012·The Journal of Dermatology·Naoki OisoTamio Suzuki
May 15, 2013·The Journal of Dermatology·Mónica Mártinez-García, Lluís Montoliu
Sep 27, 2013·Pigment Cell & Melanoma Research·Lluís MontoliuWei Li
Mar 13, 2014·The Journal of Dermatology·Junko YoshizawaTamio Suzuki
Dec 18, 2013·Pigment Cell & Melanoma Research·Alisha J BeirlCynthia D Cooper
Dec 23, 2014·Journal of Dermatological Science·Taisuke KondoVincent J Hearing
Oct 30, 2016·Journal of AAPOS : the Official Publication of the American Association for Pediatric Ophthalmology and Strabismus·Caitlin Nosanov WinsorC Gail Summers
May 16, 2018·Journal of Neuroscience Research·Brian S McKay
Jul 19, 2018·Pigment Cell & Melanoma Research·Ken OkamuraTamio Suzuki
Jun 25, 2019·Pigment Cell & Melanoma Research·Vaishnavi NathanNicholas K Hayward
Oct 19, 2019·The Journal of Dermatology·Shoko MaiHiroshi Shimizu
Sep 20, 2018·Orphanet Journal of Rare Diseases·Fanny Morice-PicardUNKNOWN Filière Maladies Rares en Dermatologie: FIMARAD
Oct 12, 2017·Der Hautarzt; Zeitschrift für Dermatologie, Venerologie, und verwandte Gebiete·A S Kubasch, M Meurer
Jun 15, 2019·Molecular Genetics & Genomic Medicine·Ye LinYuanming Wu
May 17, 2011·Expert Review of Dermatology·Taisuke Kondo, Vincent J Hearing
Sep 25, 2020·Pigment Cell & Melanoma Research·Ken Okamura, Tamio Suzuki
Feb 13, 2021·Saudi Journal of Ophthalmology : Official Journal of the Saudi Ophthalmological Society·Mufarriq ShahNasir Saeed

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