Oculocutaneous albinism type 4: six novel mutations in the membrane-associated transporter protein gene and their phenotypes.
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.
Inagaki
Katsuhiko
K
Department of Dermatology, Nagoya University Graduate School of Medicine, Nagoya, Japan.
Suzuki
Tamio
T
Ito
Shiro
S
Suzuki
Noriyuki
N
Adachi
Koji
K
Okuyama
Torayuki
T
Nakata
Yusei
Y
Shimizu
Hiroshi
H
Matsuura
Hironori
H
Oono
Takashi
T
Iwamatsu
Hiroko
H
Kono
Michihiro
M
Tomita
Yasushi
Y
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
C105445:CRYBG1 protein, human; D003459:Crystallins; D008543:Melanins; D008565:Membrane Proteins