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J Med Genet 39:377-381 doi:10.1136/jmg.39.6.377
  • Review article

The p63 gene in EEC and other syndromes

  1. H G Brunner,
  2. B C J Hamel,
  3. H van Bokhoven
  1. University Medical Centre, Department of Human Genetics 417, Geert Grooteplein 16, 6525 GA Nijmegen, The Netherlands
  1. Correspondence to:
 Dr H G Brunner, University Medical Centre, Department of Human Genetics 417, Geert Grooteplein 16, 6525 GA Nijmegen, The Netherlands;
 H.Brunner{at}ANTRG.AZN.NL

    Abstract

    Several autosomal dominantly inherited human syndromes have recently been shown to result from mutations in the p63 gene. These syndromes have various combinations of limb malformations fitting the split hand-split foot spectrum, orofacial clefting, and ectodermal dysplasia. The p63 syndrome family includes the EEC syndrome, AEC syndrome, ADULT syndrome, limb-mammary syndrome, and non-syndromic split hand/foot malformation. The pattern of heterozygous mutations is distinct for each of these syndromes. The functional effects on the p63 proteins also vary between syndromes. In all of these syndromes, the mutation appears to have both dominant negative and gain of function effects rather than causing a simple loss of function.