Abstract:

Objective Previous literature reports that the NDP gene SNP may be associated with Coats disease. To investigate the NDP gene exon mutation in 22 Chinese children with Coats’ disease and explore its role in the pathogenesis of Coats. Design Gene study. Participants 22 cases of Coats disease and 6 cases of normal person. Methods Polymerase chain reation(PCR) amplification of exon sequencing was performed to detect the whole exon of NDP gene. Main Outcome Measures Gene sequences. Results No significant SNP in the three exons of NDP genes, only c.943T＞C(no 9,18)and c.943T＞Y (no 27 , 28; Y on behalf of C/T heterozygotes) were found, but these mutations are located outside the protein coding region. Conclusion None meaningful SNP in NDP gene were found in 22 Coats’disease cases. The pathogenesis of Coats’ disease in Chinese childhood may has no relation with NDP gene mutations. (Ophthalmol CHN, 2015, 24: 127-129)

Key words: Coats disease, NDP gene, polymerase chain reaction, single nucleotide polymorphism