Oculocutaneous albinism type IV: A boy of Moroccan descent with a novel mutation in SLC45A2.

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.

• Authors: Takayuki Konno, Yuko Abe, Masakazu Kawaguchi, Katrien Storm, Martine Biervliet, Winnie Courtens, Michihiro Kono, Yasushi Tomita, Tamio Suzuki
• Journal: American journal of medical genetics. Part A (Am J Med Genet A) Vol. 149A Issue 8 Pg. 1773-6 (Aug 2009) ISSN: 1552-4833 [Electronic] United States
• PMID: 19610114 (Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't)
• Copyright: 2009 Wiley-Liss, Inc.

Chemical References

• Antigens, Neoplasm
• DNA, Complementary
• Melanins
• Membrane Transport Proteins
• Mutant Proteins
• SLC45A2 protein, human

Topics

• Albinism, Oculocutaneous (complications, genetics)
• Antigens, Neoplasm (genetics)
• Black People (genetics)
• Cell Line
• Child, Preschool
• DNA, Complementary (genetics)
• Humans
• Hypopigmentation (complications, genetics)
• Male
• Melanins (metabolism)
• Membrane Transport Proteins (genetics)
• Morocco
• Mutant Proteins (metabolism)
• Mutation (genetics)
• Transfection