title: Different ocular abnormalities in individuals of a three-generation family caused by a new nonsense mutation in the PST domain of the PAX6 gene. Mutations in brief no. 189. Online.
abstract: PAX6 is a candidate gene for familial aniridia. We have carried out a mutational analysis of the PAX6 gene in a three-generation family from Germany, containing 5 individuals affected with ocular abnormalities. In all affected individuals, a heterozygous mutation was detected in the PAX6 gene, exchanging tyrosine 369 by a stop codon. The mutation is located in the 3' moiety of the PST domain, at the C terminus of the PAX6 protein. In the affected family members, the same heterozygous mutation leads to distinct phenotypes of varying severity. Most notably, no aniridia was observed in one of the family members carrying the mutation, although other ocular abnormalities (underdeveloped iris and cataracts) were present. We discuss the possibility that small C terminal truncations of the PAX6 protein might lead to less severe or more divergent phenotypes than trancations at internal positions.
authors.affiliation: Institut für Humangenetik der Westfälischen Wilhelms-Universitát, Münster, Germany.
authors.forename: Y
authors.initials: Y
authors.lastname: Syagailo
authors.forename: K
authors.initials: K
authors.lastname: Wilke
authors.forename: O
authors.initials: O
authors.lastname: Okladnova
authors.forename: A
authors.initials: A
authors.lastname: Eigel
authors.forename: M
authors.initials: M
authors.lastname: Lemmens
authors.forename: V
authors.initials: V
authors.lastname: Kramarov
authors.forename: J
authors.initials: J
authors.lastname: Horst
mesh_terms: D015783:Aniridia / Q000235:genetics*; D018389:Codon, Nonsense / Q000235:genetics*; D004268:DNA-Binding Proteins / Q000235:genetics*; D005136:Eye Proteins / Q000235:genetics; D018398:Homeodomain Proteins; D006801:Humans; D009154:Mutation; D000071841:PAX6 Transcription Factor; D051761:Paired Box Transcription Factors; D011392:Proline / Q000235:genetics; D012097:Repressor Proteins; D012694:Serine / Q000235:genetics; D013912:Threonine / Q000235:genetics
chemical_list: D018389:Codon, Nonsense; 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; D013912:Threonine; D012694:Serine; D011392:Proline