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

Lee P.C., and Lam H.H., and Ghani S.A., and Subrayan V., and Chua K.H., (2014) Investigation of a PAX6 gene mutation in a Malaysian family with congenital aniridia. Genetics and Molecular Research, 13 (2). pp. 3553-3559. ISSN 16765680

[img]
Preview
PDF
45Kb

Official URL: http://dx.doi.org/10.4238/2014.March.24.15

Abstract

Mutations in the PAX6 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 PAX6 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 PAX6 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.857delG) in exon 7 causing a frame shift in PAX6 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 PAX6 mutation in a Malaysian family. This mutation is the cause of the aniridia spectra observed in this family and of congenital cataract.

Item Type:Article
Uncontrolled Keywords:Aniridia, Malaysian, Mutation, PAX6, PCR-HRM, Sequencing
Subjects:Q Science > QH Natural history > QH426 Genetics
ID Code:9314
Deposited By:IR Admin
Deposited On:10 Jul 2014 10:30
Last Modified:16 Feb 2015 15:03

Repository Staff Only: item control page


Browse Repository
Collection
   Articles
   Book
   Speeches
   Thesis
   UMS News
Search
Quick Search

   Latest Repository

Link to other Malaysia University Institutional Repository

Malaysia University Institutional Repository