A novel P gene missense mutation in a Japanese patient with oculocutaneous albinism type II (OCA2)

Abstract

Background: Oculocutaneous albinism type II (OCA2) is an autosomal recessively inherited disorder, characterized by white hair and skin, and loss of pigment in the eyes. Mutaions in P gene have been shown to result in OCA2. So far, two cases have been reported from Japan. Objective: We had an opportunity to examine a case of albinism, and screened the mutations of tyrosinase and P gene. Methods: Genomic DNA was prepared from peripheral leukocytes. All of the exons and flanking introns of tyrosinase and P gene were PCR-direct-sequenced. Results: Although no mutations were found in tyrosinase, we found two missense substitutions, A481T and Q799H in P gene. The A481T has previously been shown to result in partial function of the P protein. Conclusion: The Q799H mutation is not a common polymorphism among normal Japanese, seems most likely to be a pathological OCA2 mutation among Japanese with this form of albinism.