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2137 Identification of a new mutation causing an aniridia in the PST domain of PAX6

✍ 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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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

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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

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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