Pattern of p63 mutations and their phenotypes--update

Am J Med Genet A. 2006 Jul 1;140(13):1396-406. doi: 10.1002/ajmg.a.31271.


Heterozygous mutations in the transcription factor gene p63 cause at least six different syndromes with various combinations of ectodermal dysplasia, orofacial clefting and limb malformations. Here we will present an update of mutations in the p63 gene together with a comprehensive overview of the associated clinical features in 227 patients. These data confirm the previously recognized genotype-phenotype associations. Moreover, we report that there is a large degree of clinical variability in each of the p63-associated disorders. This is illustrated by the different phenotypes that are seen for the five-hotspot mutations that explain almost 90% of all EEC syndrome patients.

Publication types

  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Abnormalities, Multiple / diagnosis
  • Abnormalities, Multiple / genetics*
  • Genotype
  • Humans
  • Membrane Proteins / genetics*
  • Mutation / genetics*
  • Phenotype*


  • CKAP4 protein, human
  • Membrane Proteins