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Abstract #24202 Published in IGR 11-3
Genotype/phenotype association in Indian congenital aniridia
Neethirajan G; Solomon A; Krishnadas SR; Vijayalakshmi P; Sundaresan PIndian Journal of Pediatrics 2009; 76: 513-517
The developmental birth eye disorder of iris is known as aniridia. Heterozygous PAX6 gene, which causes human aniridia and small eye in mice, is located on chromosome 11p13. The variability had been documented between the affected individuals within the families, is due to genotypic variation. Haploinsufficiency renders PAX6 allele non-functional or amorphic, however it presents hypomorphic or neomorphic alleles. India is not a well-studied ethnic group, hence the focus on congenital aniridia gene analysis supports the literature and the phenotypic association were analysed both in sporadic as well as familial. The consistent association of truncating PAX6 mutations with the phenotype is owing to non-sense-mediated decay (NMD). It is presumed that the genetic impact of increased homozygosity and heterozygocity in Indian counter part arises as the consequence of consanguineous marriages. The real fact involved in congenital aniridia with other related phenotypes with PAX6 mutations are still controversial.
Dr. P. Sundaresan, Department of Genetics, Aravind Medical Research Foundation, Madurai-625 020, India. sundar@aravind.org
Classification:
9.1.3 Syndromes of Axenfeld, Rieger, Peters, aniridia (Part of: 9 Clinical forms of glaucomas > 9.1 Developmental glaucomas)
3.4.1 Linkage studies (Part of: 3 Laboratory methods > 3.4 Molecular genetics)
