Wolf, MTF and Lorenz, B and Winterpacht, A and Drechsler, M and Schumacher, V and Royer-Pokora, B and Blankenagel, A and Zabel, B and Wildhardt, Gabi (1998) Ten novel mutations found in Aniridia. HUMAN MUTATION, 12 (5). pp. 304-313. ISSN 1059-7794, 1098-1004
Full text not available from this repository.Abstract
Aniridia (AN) is a sight-threatening congenital ocular disorder characterized by iris hypoplasia, corneal pannus, foveal and optic nerve hypoplasia, cataract formation, and glaucoma, In two-thirds of the patients, AN is inherited in an autosomal dominant fashion with almost complete penetrance but variable expression. The remaining cases are sporadic, Aniridia has been shown to be associated with mutations in the PAX6 gene, located on chromosome 11p13, telomeric to the Wilms' tumor predisposition gene (WT1),This paper describes 14 mutations in the PAX6 gene in patients with AN. Among these 14 mutations, 10 have been unpublished until now. They result most probably in haploinsufficiency and consequently in a reduced protein level of functional PAX6 protein. The mutations reported here are scattered all over the gene, including the paired-box, the glycine rich region, the homeobox, and the proline-serine-threonine (PST)-rich region, (C) 1998 Wiley-Liss, Inc.
| Item Type: | Article |
|---|---|
| Uncontrolled Keywords: | RENAL-COLOBOMA SYNDROME; HUMAN PAX6 GENE; HOMEOBOX-CONTAINING GENE; WAARDENBURG SYNDROME; PAIRED DOMAIN; DNA-BINDING; DEVELOPING CNS; FAMILY; EYE; CONSERVATION; aniridia; PAX6 gene; WT1 gene |
| Subjects: | 600 Technology > 610 Medical sciences Medicine |
| Divisions: | Medicine > Abteilung für Pädiatrische Ophthalmologie, Strabismologie und Ophthalmogenetik |
| Depositing User: | Dr. Gernot Deinzer |
| Date Deposited: | 31 Oct 2023 09:07 |
| Last Modified: | 31 Oct 2023 09:07 |
| URI: | https://pred.uni-regensburg.de/id/eprint/50214 |
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