Tyrosinase gene analysis in Japanese patients with oculocutaneous albinism

Journal of Dermatological Science
Maki GotoHiroshi Shimizu

Abstract

Oculocutaneous albinism (OCA) is a heterogeneous congenital disorder. Tyrosinase is a key enzyme in melanin biosynthesis, and tyrosinase gene mutations cause the OCA1 subtype. This study was intended evaluate the frequency and details of tyrosinase gene mutations in Japanese OCA patients. We examined nine non-consanguineous OCA families, sequenced the tyrosinase gene of the patients and also confirmed a splicing site mutation using exon trapping system. Tyrosinase gene mutations were identified in five out of nine OCA families (55%). IVS2-10deltt-7t-a was present in 3 out of 18 alleles in three families (16%), P310insC was present in three alleles in three families (16%) and R278X was found in three alleles (16%), including those in one heterozygous and one compound homozygous patient. G97V (290 G-T) was found in 1 out of 18 alleles, and we could not find G97V in the mutation database. We have added this mutation as 9th mutation of Japanese OCA1 patients. In 8 of 18 alleles, four families, no tyrosinase mutations were identified. They were presumed not to be OCA1, but other subtypes of OCA. Exon trapping system demonstrated IVS2-10deltt-7t-a mutation generated the abnormal splicing site, and inserted the codon 4 bases in mRNA l...Continue Reading

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Citations

Nov 2, 2011·Japanese Journal of Ophthalmology·Shin Hae ParkMyungshin Kim
Jun 28, 2012·Orphanet Journal of Rare Diseases·Thomas J JaworekZubair M Ahmed
Feb 2, 2012·Molecular Medicine Reports·Jung Min KoHyon-Ju Kim
Jan 13, 2015·Genetics Research·Ning LiuMiao Jiang
Apr 15, 2008·Journal of Dermatological Science·Tamio Suzuki, Yasushi Tomita
Mar 16, 2007·Progress in Retinal and Eye Research·Kunal RayMainak Sengupta
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Jul 15, 2015·Journal of Genetics and Genomics = Yi Chuan Xue Bao·Ai-Hua WeiWei Li
Feb 14, 2018·Genetic Testing and Molecular Biomarkers·Biyuan QiuJiyun Yang
Apr 17, 2018·Molecular Medicine Reports·Wan SunJianjun Chen
Jun 15, 2019·Molecular Genetics & Genomic Medicine·Ye LinYuanming Wu
Aug 26, 2018·Fish Physiology and Biochemistry·Jinxing DuChenghui Wang
Jun 7, 2005·Journal of Human Genetics·Laila ZahedFadi Haddad
May 28, 2021·Journal of the European Academy of Dermatology and Venereology : JEADV·E Moreno-ArteroS Hadj-Rabia
Nov 18, 2018·The Journal of Investigative Dermatology·Ayako TeramaeKazuyoshi Fukai

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