title: Genotype/phenotype association in Indian congenital aniridia.
abstract: 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.
authors.affiliation: Department of Ophthalmology, Hebrew University Medical Center Jerusalem, Jerusalem, Israel.
authors.forename: Guruswamy
authors.initials: G
authors.lastname: Neethirajan
authors.forename: Abraham
authors.initials: A
authors.lastname: Solomon
authors.forename: Subbaiah Ramasamy
authors.initials: SR
authors.lastname: Krishnadas
authors.forename: Perumalsamy
authors.initials: P
authors.lastname: Vijayalakshmi
authors.forename: Periasamy
authors.initials: P
authors.lastname: Sundaresan
mesh_terms: D015783:Aniridia / Q000453:epidemiology / Q000208:ethnology* / Q000235:genetics* / Q000628:therapy; D002675:Child, Preschool; D003376:Counseling; D005260:Female; D018507:Gene Expression Regulation, Developmental; D020022:Genetic Predisposition to Disease / Q000453:epidemiology*; D005820:Genetic Testing; D005838:Genotype; D006801:Humans; D007194:India / Q000453:epidemiology; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D009154:Mutation; D015997:Neonatal Screening; D051761:Paired Box Transcription Factors / Q000235:genetics*; D010641:Phenotype; D018570:Risk Assessment
chemical_list: D051761:Paired Box Transcription Factors