Oculocutaneous albinism type 4: six novel mutations in the membrane-associated transporter protein gene and their phenotypes.

Abstract

Oculocutaneous albinism type 4 (OCA4) is an autosomal recessive hypopigmentary disorder caused by mutations in the Membrane-Associated Transporter Protein gene (SLC45A2). The SLC45A2 protein is a 530-amino-acid polypeptide that contains 12 putative transmembrane domains, and appears to be a transporter that mediates melanin synthesis. Eighteen pathological mutations have been reported so far. In this study, six novel mutations, p.Y49C (c.146A > G), p.G89R (c.265G > A), p.C229Y (c.686G > A), p.T437A (c.1309A > G), p.T440A (c.1318A > G) and p.G473D (c.1418G > A) were found in eight Japanese patients with various clinical phenotypes. The phenotypes of OCA4 were as various as the other types of OCA and probably depended on the mutation sites in the SLC45A2 gene.

• Authors: Katsuhiko Inagaki, Tamio Suzuki, Shiro Ito, Noriyuki Suzuki, Koji Adachi, Torayuki Okuyama, Yusei Nakata, Hiroshi Shimizu, Hironori Matsuura, Takashi Oono, Hiroko Iwamatsu, Michihiro Kono, Yasushi Tomita
• Journal: Pigment cell research (Pigment Cell Res) Vol. 19 Issue 5 Pg. 451-3 (Oct 2006) ISSN: 0893-5785 [Print] Denmark
• PMID: 16965274 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't)

Chemical References

• CRYBG1 protein, human
• Crystallins
• Melanins
• Membrane Proteins

Topics

• Albinism, Oculocutaneous (genetics, metabolism)
• Asian People
• Child
• Child, Preschool
• Crystallins
• Female
• Genes, Recessive (genetics)
• Humans
• Infant
• Japan
• Male
• Melanins (biosynthesis, genetics)
• Membrane Proteins (genetics, metabolism)
• Mutation, Missense