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A novel deletion (IVS11+3del4) identified in the human PAX6 gene in a patient with aniridia

✍ Scribed by Nicola J. Murton; Ishtiaq Rehman; Graeme C.M. Black; Chris F. Inglehearn; Amanda J. Churchill


Publisher
John Wiley and Sons
Year
2000
Tongue
English
Weight
13 KB
Volume
15
Category
Article
ISSN
1059-7794

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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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## Abstract A series of 125 patients referred primarily with aniridia classified as either sporadic (74), familial (24), or in association with WAGR syndrome (14) or other malformations (13) was analysed for mutations, initially by karyotyping and targeted FISH analysis of chromosome 11p13. These m