A novel nonsense mutation of the GPR143 gene identified in a Chinese pedigree with ocular albinism.

Abstract

BACKGROUND:

The purpose of this study was to elucidate the molecular basis of ocular albinism type I in a Chinese pedigree.

METHODOLOGY/PRINCIPAL FINDINGS:

Complete ophthalmologic examinations were performed on 4 patients, 7 carriers and 17 unaffected individuals in this five-generation family. All coding exons of four-point-one (4.1), ezrin, radixin, moesin (FERM) domain-containing 7 (FRMD7) and G protein-coupled receptor 143 (GPR143) genes were amplified by polymerase chain reaction (PCR), sequenced and compared with a reference database. Ocular albinism and nystagmus were found in all patients of this family. Macular hypoplasia was present in the patients including the proband. A novel nonsense hemizygous mutation c.807T>A in the GPR143 gene was identified in four patients and the heterozygous mutation was found in seven asymptomatic individuals. This mutation is a substitution of tyrosine for adenine which leads to a premature stop codon at position 269 (p.Y269X) of GPR143.

CONCLUSIONS/SIGNIFICANCE:

This is the first report that p.Y269X mutation of GPR143 gene is responsible for the pathogenesis of familial ocular albinism. These results expand the mutation spectrum of GPR143, and demonstrate the clinical characteristics of ocular albinism type I in Chinese population.

• Authors: Naihong Yan, Xuan Liao, Su-ping Cai, Changjun Lan, Yun Wang, Xiaomin Zhou, Yan Yin, Wenhan Yu, Xuyang Liu
• Journal: PloS one (PLoS One) Vol. 7 Issue 8 Pg. e43177 ( 2012) ISSN: 1932-6203 [Electronic] United States
• PMID: 22916221 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't)

Chemical References

• Codon, Nonsense
• Cytoskeletal Proteins
• Eye Proteins
• FRMD7 protein, human
• GPR143 protein, human
• Membrane Glycoproteins
• Membrane Proteins
• ezrin
• radixin

Topics

• Adult
• Albinism, Ocular (genetics)
• Asian People
• Codon, Nonsense (genetics)
• Cytoskeletal Proteins (genetics)
• Exons (genetics)
• Eye Proteins (genetics)
• Female
• Humans
• Male
• Membrane Glycoproteins (genetics)
• Membrane Proteins (genetics)
• Middle Aged
• Pedigree
• Polymerase Chain Reaction
• Young Adult