Aniridia is an autosomal dominant panocular disorder, characterized by hypoplasia of the iris. It is caused by mutations in the PAX6 gene. This gene encodes a 422-amino acid transcription factor. This protein includes paired and homeo domains, which bind DNA and a proline-serine and threonine-rich P
2137 Identification of a new mutation causing an aniridia in the PST domain of PAX6
β Scribed by I. Sahly; M. Abitbol; I. Ghazi; F. Ribeaudeau; M. Gerard; M. Vekemans; J.L. Dufier
- Book ID
- 116075952
- Publisher
- Elsevier Science
- Year
- 1995
- Tongue
- English
- Weight
- 128 KB
- Volume
- 35
- Category
- Article
- ISSN
- 0042-6989
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π SIMILAR VOLUMES
PAX6 is a candidate gene for familial aniridia. We have carried out a mutational analysis of the PAX6 gene in a three-generation family from Germany, containing 5 individuals affected with ocular abnormalities. In all affected individuals, a heterozygous mutation was detected in the PAX6 gene, excha
The PAX6 mutation present in an individual with aniridia was determined and phenotypic features of immediate relatives carrying the same mutation investigated. Mutation analysis revealed a novel single base deletion 1410delC in the PAX6 gene in ten affected individuals. Clinical features ranged from