Home Page
References OMIM Gene GeneReviews HGMD HGNC
GENATLAS PHENOTYPE
last update : 20/11/2011
Symbol AN
Location 11p13
HGNC id 8620
Name aniridia
Corresponding gene PAX6
Other symbol(s) AN2
Main clinical features
  • complete or partial iris hypoplasia causing reduced visual activity
    • Genetic determination autosomal dominant
    Related entries WAGR
    Function/system disorder eye
    Type malformation
    Gene product
    Name paired box containing protein, homologous to murine Pax6 (PAX6)
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    various types   haploinsufficiency small intragenic or point mutations dostributed throughout the gene
    deletion   haploinsufficiency deletion of the whole gene or partial gene deletion
    other   haploinsufficiency disruption of regulatory elements in 3 prime
      deletion haploinsufficiency cytogenetically visible or cryptic microdeletions that may include WT1 (WAGR), some cryptic deletions were found mosaics
      translocation haploinsufficiency translocation with a breakpoint in 3 prime of PAX6 and position effect
    abnormal splicing   abnormal RNA splice site mutation of intron 12 leading to to an elimination of the normal stop codon and an abnormal 3' elongation of the mRNA (PMID:21633710)
    Remark(s)
  • missense mutations in PAX6 underlie a spectrum of human congenital eye malformations
  • mutation disrupting an autoregulatory PAX6 binding site, causing loss of enhancer activity, resulting in defective maintenance of PAX6 expression associated with Aniridia (PMID: 24290376))
    • Genotype/Phenotype correlations isolated ocular abnormality or, more rarely, as part of the WAGR complex (MIM194072) and a high risk of developping Wilms tumor up to the age of six years