title: [Genetics of congenital aniridia].
abstract: BACKGROUND
  Mutations in the PAX6 gene mostly cause non-syndromic aniridia with autosomal dominant inheritance and familial occurrence. The underlying point mutations and deletions in the PAX6 locus cause loss-of-function of one gene copy (haploinsufficiency). Mutations with residual PAX6 function often result in milder disease expression but may also cause distinct and more severe ocular phenotypes. Combined deletion of PAX6 and the adjacent WT1 tumor suppressor gene causes Wilms tumor, aniridia, genitourinary anomalies and mental retardation (WAGR) syndrome with a high risk for Wilms tumors in infancy.
  
  
  OBJECTIVE
  Genetic diagnostics are important for confirming the clinical diagnosis, for the assessment of the risk of recurrence and early recognition of children with associated tumor risk.
  
  
  CONCLUSIONS
  Sequencing of the PAX6 gene and quantitative analysis of the PAX6 locus allow for efficient molecular genetic evaluation of the clinical diagnosis of both isolated and syndromic aniridia. In cases of clinical overlap with other entities, high-throughput sequencing of multiple additional genes can simultaneously cover genes for differential diagnoses (e.g. microphthalmia syndromes). Optimal care of aniridia patients requires close cooperation of ophthalmologists and medical geneticists.
authors.affiliation: Bioscientia Zentrum für Humangenetik, Konrad Adenauer-Str. 17, 55218, Ingelheim, Deutschland.
authors.forename: C
authors.initials: C
authors.lastname: Neuhaus
authors.forename: C
authors.initials: C
authors.lastname: Betz
authors.forename: C
authors.initials: C
authors.lastname: Bergmann
authors.forename: H J
authors.initials: HJ
authors.lastname: Bolz
mesh_terms: D015783:Aniridia / Q000175:diagnosis* / Q000235:genetics*; D005136:Eye Proteins / Q000235:genetics*; D005817:Genetic Counseling / Q000379:methods*; D005819:Genetic Markers / Q000235:genetics; D020022:Genetic Predisposition to Disease / Q000235:genetics; D005820:Genetic Testing / Q000379:methods*; D018398:Homeodomain Proteins / Q000235:genetics*; D006801:Humans; D000071841:PAX6 Transcription Factor; D051761:Paired Box Transcription Factors / Q000235:genetics*; D017354:Point Mutation / Q000235:genetics; D020641:Polymorphism, Single Nucleotide / Q000235:genetics; D012097:Repressor Proteins / Q000235:genetics*; D025721:WT1 Proteins / Q000235:genetics*
chemical_list: D005136:Eye Proteins; D005819:Genetic Markers; D018398:Homeodomain Proteins; D000071841:PAX6 Transcription Factor; C000605730:PAX6 protein, human; D051761:Paired Box Transcription Factors; D012097:Repressor Proteins; D025721:WT1 Proteins; C583751:WT1 protein, human