A splicing mutation of the tyrosinase gene causes yellow oculocutaneous albinism in a Japanese patient with a pigmented phenotype.
BACKGROUND
Yellow oculocutaneous albinism (OCA) that is caused by tyrosinase gene mutations shows two characteristics: extreme hypopigmentation at birth and the eventual development of yellow or blond hair.


OBJECTIVE
We studied a Japanese girl who had brown hair, a lighter skin color than her unaffected family and brown eyes at 9 months of age.


METHODS
We performed direct sequencing analyses of the tyrosinase gene in her genomic DNA.


RESULTS
The patient was a compound heterozygote for the +DeltaC310 mutation (known to result in absent melanogenic activity) and a second t-->a transition at the 3' end of intron 2.


CONCLUSIONS
The t-->a transition has previously been reported as a splicing mutation in other Caucasian patients with a typical yellow OCA phenotype. However, this patient showed much more pigmentation than that reported in Caucasians. Therefore, we estimate that the mild phenotype results from her genetic pigment background.
Matsunaga
J
J
Department of Dermatology, Akita University School of Medicine, Akita, Japan.
Dakeishi-Hara
M
M
Tanita
M
M
Nindl
M
M
Nagata
Y
Y
Nakamura
E
E
Miyamura
Y
Y
Kikuchi
K
K
Furue
M
M
Tomita
Y
Y
D016115:Albinism, Oculocutaneous / Q000235:genetics* / Q000473:pathology*; D017398:Alternative Splicing / Q000235:genetics*; D004252:DNA Mutational Analysis; D005260:Female; D005820:Genetic Testing; D005838:Genotype; D006579:Heterozygote; D006801:Humans; D007223:Infant; D007564:Japan; D008543:Melanins / Q000172:deficiency; D014442:Monophenol Monooxygenase / Q000235:genetics*; D009154:Mutation; D010641:Phenotype; D010858:Pigmentation / Q000235:genetics*; D017384:Sequence Deletion
D008543:Melanins; D014442:Monophenol Monooxygenase