Investigation of a PAX6 gene mutation in a Malaysian family with congenital aniridia.

[aniridia]

Mutations in the PAX 6 gene that cause aniridia have been identified in various ethnicities but not in the Malaysian population . Therefore , the objective of this study was to investigate the PAX 6 mutation in a Malaysian family with congenital aniridia . In this study , a complete ophthalmic examination was performed on a Dusun ethnic family with aniridia . Genomic DNA was extracted from the peripheral blood of the subjects and screened for the PAX 6 gene mutation using polymerase chain reaction amplification high -resolution melting curve analysis (PCR-HRM ) followed by confirmation via direct DNA sequencing . A heterozygous G deletion (c .857 delG ) in exon 7 causing a frame shift in PAX 6 was identified in all affected family members . Genotype-phenotype correlation analysis revealed congenital cataract and all affected family members showed a similar spectrum of aniridia with no phenotypic variability but with differences in severity that were age-dependent . In summary , by using a PCR-HRM approach , this study is the first to report a PAX 6 mutation in a Malaysian family . This mutation is the cause of the aniridia spectra observed in this family and of congenital cataract .