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last update : 20-09-2012
Symbol DEL11PP
Location 11p11.2
Name Potocki-Shaffer syndrome
Other name(s)
  • proximal 11p deletion syndrome
  • DEFECT11 syndrome
  • deletion 11 contiguous gene syndrome
  • Corresponding gene EXT2 , ALX4 , PHF21A
    Other symbol(s) P11pDS, del(11)(p11-p12), PSS, DEF11S
    Main clinical features
  • main features : skull ossification defect (foramina parietalis permagna, FPP) and multiple exostoses (EXT)
  • others : developmental delay, mental retardation, enlarged anterior fontanel, minor craniofacial anomalies, ophtalmologic anomalies and genital abnormalities in males
  • Genetic determination chromosomal
    Function/system disorder multisystem/generalized
    mental retardation
    Type MCA/MR
    Gene product
    Name contiguous gene syndrome with deletion of ALX4, EXT2, PHF21A and additional genes
    Gene mutationChromosome rearrangementEffectComments
      deletion haploinsufficiency interstitial proximal deletion of the short arm of chr11, variable size, encompassing ALX4, EXT2 and additional genes
      other   familial occurence was reported in 3 brothers whose the phenotypically normal mother has the deletion and a neocentric marker chromosome
      breakpoint haploinsufficiency disruption of PHF21A by translocations in the PSS region is associated with ID PMID: 22770980
    Genotype/Phenotype correlations larger deletions extending proximally may associate obesity and/or cardiomyopathy, oe even WAGR complex ; several families with mentally normal patients are reported ; the ID and cranio-facial anomalies phenotypes are both caused by haploinsufficiency of a single gene, PHF21A PMID: 22770980 ;