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Ten novel mutations found in aniridia
Author(s) -
Wolf Matthias T. F.,
Lorenz B,
Winterpacht A,
Drechsler M,
Schumacher V,
RoyerPokora B,
Blankenagel A,
Zabel B,
Wildhardt G
Publication year - 1998
Publication title -
human mutation
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.981
H-Index - 162
eISSN - 1098-1004
pISSN - 1059-7794
DOI - 10.1002/(sici)1098-1004(1998)12:5<304::aid-humu3>3.0.co;2-d
Subject(s) - aniridia , pax6 , biology , haploinsufficiency , genetics , hypoplasia , penetrance , mutation , gene , anatomy , phenotype , transcription factor
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 Among these 14 mutations, 10 have been unpublished until now.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. Hum Mutat 12:304–313, 1998.© 1998 Wiley‐Liss, Inc