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Identification of novel mutant PAX6 alleles in Indian cases of familial aniridia by Guruswamy Neethirajan; Jeyabalan Nallathambi; Subbaiah Ramasamy Krishnadas; Perumalsamy Vijayalakshmi; Shetty Shashikanth; Jon Martin Collinson; Periasamy Sundaresan is a Medicine article available to read on EtoBox.

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## Background Haploinsufficiency at the __PAX6__ locus causes aniridia, a panocular eye condition characterized by iris hypoplasia and a variety of other anterior and posterior eye defects leading to poor vision. This study was performed to identify novel __PAX6__ mutations that lead to familial aniridia in Indian patients. ## Methods Genomic DNA was isolated from affected individuals (clinically diagnosed aniridia) from nine unrelated aniridic pedigrees, unaffected family members, and unrelated normal controls. The coding regions of __PAX6__ were amplified and subjected to single strand conformation polymorphism (SSCP) gel analysis, and direct cloning and sequencing. ## Results SSCP band shifts, indicative of DNA base pair mutations, were observed in five of these unrelated families. Four mutations were shown to be previously unreported insertion or deletions in __PAX6__, leading to frameshifts. These new mutations were c.1174delTG (in exon 10), c.710delC (exon 6), c.406delTT (exon 5) and c.393insTCAGC (exon 5). The other nonsense mutation, a transition (c.1080C>T) in exon 9, has been reported previously as a mutation hotspot for __PAX6__ in other ethnic pedigrees. All mutant alle

Who reads Identification of novel mutant PAX6 alleles in Indian cases of familial aniridia?

Author

Guruswamy Neethirajan; Jeyabalan Nallathambi; Subbaiah Ramasamy Krishnadas; Perumalsamy Vijayalakshmi; Shetty Shashikanth; Jon Martin Collinson; Periasamy Sundaresan

Publisher

BioMed Central; Springer (Biomed Central Ltd.); London: BioMed Central, 2001-; Springer Science and Business Media LLC; Society for Mining, Metallurgy and Exploration Inc. (ISSN 1471-2415)

Published

2006

Language

EN

Field

Medicine (Health Sciences)