Six novel P gene mutations and oculocutaneous albinism type 2 frequency in Japanese albino patients

J Invest Dermatol. 2003 May;120(5):781-3. doi: 10.1046/j.1523-1747.2003.12127.x.

Abstract

Type 2 oculocutaneous albinism (OCA2) is an autosomal recessive disorder that results from mutations in the P gene that codes one of the melanosomal proteins, the function of which remains unknown. In this paper, we report the frequency of OCA2, 8%, among the Japanese albino population, six novel mutations containing four missense substitutions (P198L, P211L, R10W, M398I), and two splice site mutations (IVS15+1 G>A, IVS24-1 G>C). One of them, R10W, was within the putative signal peptide at the N-terminal of the P protein. This is the first report on the frequency of OCA2 in the Japanese albino population.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Albinism / genetics*
  • Albinism, Oculocutaneous / epidemiology
  • Albinism, Oculocutaneous / genetics*
  • Carrier Proteins / genetics*
  • Humans
  • Japan
  • Male
  • Membrane Proteins / genetics*
  • Membrane Transport Proteins*
  • Mutation*
  • Mutation, Missense
  • Phenotype
  • Polymorphism, Genetic
  • Polymorphism, Single-Stranded Conformational
  • Protein Sorting Signals

Substances

  • Carrier Proteins
  • Membrane Proteins
  • Membrane Transport Proteins
  • OCA2 protein, human
  • Protein Sorting Signals