A splicing mutation of the tyrosinase gene causes yellow oculocutaneous albinism in a Japanese patient with a pigmented phenotype

Jun Matsunaga, Miwako Dakeishi-Hara, Muneo Tanita, Margit Nindl, Yoichi Nagata, Eriko Nakamura, Yoshinori Miyamura, Kanako Kikuchi, Masutaka Furue, Yasushi Tomita

Research output: Contribution to journalArticlepeer-review

19 Citations (Scopus)

Abstract

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 +ΔC310 mutation (known to result in absent melanogenic activity) and a second t→a transition at the 3' end of intron 2. Conclusion: 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.

Original languageEnglish
Pages (from-to)124-129
Number of pages6
JournalDermatology
Volume199
Issue number2
DOIs
Publication statusPublished - 1999

All Science Journal Classification (ASJC) codes

  • Dermatology

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