How to cite this article: Konno T, Abe Y, Kawaguchi M, Storm K, Biervliet M, Courtens W, Kono M, Tomita Y, Suzuki T. 2009. Oculocutaneous albinism type IV: A boy of Moroccan descent with a novel mutation in SLC45A2. Am J Med Genet Part A 149A:1773–1776.
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Clinical Report
Oculocutaneous albinism type IV: A boy of Moroccan descent with a novel mutation in SLC45A2†
Article first published online: 16 JUL 2009
DOI: 10.1002/ajmg.a.32964
Copyright © 2009 Wiley-Liss, Inc.
Additional Information
How to Cite
Konno, T., Abe, Y., Kawaguchi, M., Storm, K., Biervliet, M., Courtens, W., Kono, M., Tomita, Y. and Suzuki, T. (2009), Oculocutaneous albinism type IV: A boy of Moroccan descent with a novel mutation in SLC45A2. Am. J. Med. Genet., 149A: 1773–1776. doi: 10.1002/ajmg.a.32964
- †
Publication History
- Issue published online: 23 JUL 2009
- Article first published online: 16 JUL 2009
- Manuscript Accepted: 9 MAY 2009
- Manuscript Received: 5 APR 2009
Funded by
- Ministry of Education, Science and Culture of Japan. Grant Number: 18390312
- Abstract
- Article
- References
- Cited By
Keywords:
- melanin;
- albinism;
- melanogenesis;
- Moroccan
Abstract
Oculocutaneous albinism type IV (OCA4 [MIM606574]) caused by mutations of the SLC45A2 gene is an autosomal recessive disorder of pigmentation characterized by reduced biosynthesis of melanin pigment in the skin, hair, and eye. We had the opportunity to examine a Belgian boy of Moroccan descent with clinically severe OCA and screened the mutation in his SLC45A2 gene. Sequencing of exon 1, of which the PCR product showed aberrant patterns in the SSCP gel, revealed that the patient was a homozygote for p.H38R mutation. We demonstrated that the p.H38R-mutant protein was functionally incapable of melanin synthesis using melanocyte cultures (under white cells; uw) established from a mouse model of OCA4. This is the second report of the occurrence of OCA4 in a member of an African ethnic group. © 2009 Wiley-Liss, Inc.