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GENATLAS PHENOTYPE
last update : 22-06-2011
Symbol ANOP3
Location 3q26.33
Name anophthalmos, 3, syndromic
Other name(s)
  • microphthalmia, syndromic 3
  • anophthalmia-esophageal-genital (AEG) syndrome
    • Corresponding gene SOX2
    Other symbol(s) MCOPS3, AEG, DEL3Q27
    Main clinical features
  • true or primary due to failure of formation of the optic pit, including anophthalmia and extreme microphthalmia, typical ocular coloboma
  • learning disability, seizures, deafness, brain malformation, specific motor abnormalities, male genital tract malformations, mild facial dysmorphism, esophageal atresia with tracheo-esophageal fistula and postnatal growth failure
    • Genetic determination autosomal dominant
    chromosomal
    Function/system disorder eye
    Type disease
    Gene product
    Name SRY-related HMG-box gene 2
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    missense   haploinsufficiency  
    nonsense   truncated protein Truncated protein in HMG domain results in no DNA-binding protein or transactivation activity associated with dental anomaly
      breakpoint haploinsufficiency t(3;11)(q27;p11.2)
      deletion   microdeletions encompassing SOX2
    Remark(s) mutations identified in patients impair the ability of SOX2 to antagonize the transcriptional activity of beta-catenin
    Genotype/Phenotype correlations heterozygous SOX2 mutation may cause isolated hypogonadotropic hypogonadism and anophthalmia/microphthalmia in offspring, PMID: 21326281..