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- A novel mutation of the tyrosinase gene causing oculocutaneous albinism type 1 (OCA1).
A novel mutation of the tyrosinase gene causing oculocutaneous albinism type 1 (OCA1).
Journal of dermatological science (2002-02-23)
Eriko Nakamura, Yoshinori Miyamura, Jun Matsunaga, Yoko Kano, Miwako Dakeishi-Hara, Muneo Tanita, Michihiro Kono, Yasushi Tomita
PMID11858948
ABSTRACT
Tyrosinase is a rate-limiting enzyme in the melanin biosynthetic pathway and a complete defect of the enzyme activity caused by homozygous mutations of the tyrosinase gene is well known to result in tyrosinase-negative oculocutaneous albinism (OCA1A) patients who never develop any melanin pigment in the skin, hair and eyes throughout life. In this paper, we report a novel missense substitution, R239W(CGG --> TGG) of the tyrosinase gene in a patient with tyrosinase-negative OCA.
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