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

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

doi:10.1111/j.1600-0749.2006.00332.x

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

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

University Hospital

Research output: Contribution to journal › Article › peer-review

38 Citations (Scopus)

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.

Original language	English
Pages (from-to)	451-453
Number of pages	3
Journal	Pigment Cell Research
Volume	19
Issue number	5
DOIs	https://doi.org/10.1111/j.1600-0749.2006.00332.x
Publication status	Published - Oct 2006

Keywords

OCA4
SLC45A2
Six novel mutations

ASJC Scopus subject areas

Agronomy and Crop Science
Plant Science
Developmental Biology
Clinical Biochemistry
Cell Biology

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10.1111/j.1600-0749.2006.00332.x

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Inagaki, K., Suzuki, T., Ito, S., Suzuki, N., Adachi, K., Okuyama, T., Nakata, Y., Shimizu, H., Matsuura, H., Oono, T., Iwamatsu, H., Kono, M., & Tomita, Y. (2006). Oculocutaneous albinism type 4: Six novel mutations in the membrane-associated transporter protein gene and their phenotypes. Pigment Cell Research, 19(5), 451-453. https://doi.org/10.1111/j.1600-0749.2006.00332.x

Inagaki, K, Suzuki, T, Ito, S, Suzuki, N, Adachi, K, Okuyama, T, Nakata, Y, Shimizu, H, Matsuura, H, Oono, T, Iwamatsu, H, Kono, M & Tomita, Y 2006, 'Oculocutaneous albinism type 4: Six novel mutations in the membrane-associated transporter protein gene and their phenotypes', Pigment Cell Research, vol. 19, no. 5, pp. 451-453. https://doi.org/10.1111/j.1600-0749.2006.00332.x

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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.",

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

Abstract

Keywords

ASJC Scopus subject areas

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