title: 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.affiliation: Department of Dermatology, Nagoya University Graduate School of Medicine, Nagoya, Japan.
authors.forename: Katsuhiko
authors.initials: K
authors.lastname: Inagaki
authors.forename: Tamio
authors.initials: T
authors.lastname: Suzuki
authors.forename: Shiro
authors.initials: S
authors.lastname: Ito
authors.forename: Noriyuki
authors.initials: N
authors.lastname: Suzuki
authors.forename: Koji
authors.initials: K
authors.lastname: Adachi
authors.forename: Torayuki
authors.initials: T
authors.lastname: Okuyama
authors.forename: Yusei
authors.initials: Y
authors.lastname: Nakata
authors.forename: Hiroshi
authors.initials: H
authors.lastname: Shimizu
authors.forename: Hironori
authors.initials: H
authors.lastname: Matsuura
authors.forename: Takashi
authors.initials: T
authors.lastname: Oono
authors.forename: Hiroko
authors.initials: H
authors.lastname: Iwamatsu
authors.forename: Michihiro
authors.initials: M
authors.lastname: Kono
authors.forename: Yasushi
authors.initials: Y
authors.lastname: Tomita
mesh_terms: D016115:Albinism, Oculocutaneous / Q000235:genetics* / Q000378:metabolism; D044466:Asian People; D002648:Child; D002675:Child, Preschool; D003459:Crystallins; D005260:Female; D005808:Genes, Recessive / Q000235:genetics; D006801:Humans; D007223:Infant; D007564:Japan; D008297:Male; D008543:Melanins / Q000096:biosynthesis / Q000235:genetics; D008565:Membrane Proteins / Q000235:genetics* / Q000378:metabolism; D020125:Mutation, Missense
chemical_list: C105445:CRYBG1 protein, human; D003459:Crystallins; D008543:Melanins; D008565:Membrane Proteins