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Four novel and two previously reported mutations of the PAX6 gene in patients with aniridia

โœ Scribed by Grady F. Saunders; Lian-Yu Chao

Publisher
John Wiley and Sons
Year
1998
Tongue
English
Weight
161 KB
Volume
11
Category
Article
ISSN
1059-7794

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Mutation in the PAX6 gene in twenty pati
Mutation in the PAX6 gene in twenty patients with aniridia
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This is a report on the nature of the mutations in the PAX6 gene in twenty patients with aniridia. Five of the twenty patients had sporadic aniridia with deletions in chromosome 11p13. Three of the five had WAGR syndrome (Wilms tumor, aniridia, genitourinary anomalies, mental retardation), and the o

Identification of a novel PAX6 gene muta
Identification of a novel PAX6 gene mutation in an Aniridia patient
โœ Iman Sahly; Marc Abitbol; Claudine Laurent; Imad Ghazi; Florence Ribeaudeau; Mic ๐Ÿ“‚ Article ๐Ÿ“… 1996 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 119 KB ๐Ÿ‘ 2 views

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

Identification of novel PAX6 mutations i
Identification of novel PAX6 mutations in two families with bilateral aniridia
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We report two novel PAX6 mutations in aniridia patients of two Swiss pedigrees (We, Sc) which give rise to different phenotypes. An SSCP analysis of the PAX6 14 exons reveals electrophoretic mobility shifts exclusively in exons 5 and 12 of aniridia patients. As determined by bidirectional sequencing