title: Ten novel mutations found in Aniridia.
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 Among these 14 mutations, 10 have been unpublished until now.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.
authors.affiliation: University Children's Hospital, Mainz, Germany.
authors.forename: M T
authors.initials: MT
authors.lastname: Wolf
authors.forename: B
authors.initials: B
authors.lastname: Lorenz
authors.forename: A
authors.initials: A
authors.lastname: Winterpacht
authors.forename: M
authors.initials: M
authors.lastname: Drechsler
authors.forename: V
authors.initials: V
authors.lastname: Schumacher
authors.forename: B
authors.initials: B
authors.lastname: Royer-Pokora
authors.forename: A
authors.initials: A
authors.lastname: Blankenagel
authors.forename: B
authors.initials: B
authors.lastname: Zabel
authors.forename: G
authors.initials: G
authors.lastname: Wildhardt
mesh_terms: D000293:Adolescent; D000328:Adult; D000595:Amino Acid Sequence; D015783:Aniridia / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D004252:DNA Mutational Analysis; D004268:DNA-Binding Proteins / Q000235:genetics*; D005136:Eye Proteins / Q000235:genetics*; D005260:Female; D018398:Homeodomain Proteins; D006801:Humans; D007223:Infant; D008297:Male; D008875:Middle Aged; D008969:Molecular Sequence Data; D009154:Mutation; D000071841:PAX6 Transcription Factor; D051761:Paired Box Transcription Factors; D016133:Polymerase Chain Reaction; D018807:Polymorphism, Single-Stranded Conformational; D012097:Repressor Proteins; D014157:Transcription Factors / Q000235:genetics*
chemical_list: D004268:DNA-Binding Proteins; D005136:Eye Proteins; D018398:Homeodomain Proteins; D000071841:PAX6 Transcription Factor; C000605730:PAX6 protein, human; D051761:Paired Box Transcription Factors; D012097:Repressor Proteins; D014157:Transcription Factors