Genotype/phenotype association in Indian congenital aniridia
Genotype/phenotype association in Indian congenital aniridia
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DOI：
10.1007/s12098-009-0075-4
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发表时间：
2009-04
期刊：
影响因子：
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通讯作者：
G. Neethirajan;Abraham Solomon;S. Krishnadas;P. Vijayalakshmi;Periasamy Sundaresan
中科院分区：
文献类型：
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作者：
G. Neethirajan;Abraham Solomon;S. Krishnadas;P. Vijayalakshmi;Periasamy Sundaresan
The developmental birth eye disorder of iris is known as aniridia. HeterozygousPAX6gene, 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 rendersPAX6allele 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 truncatingPAX6mutations 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 withPAX6mutations are still controversial.
