Ectrodactyly-Ectodermal Dysplasia-Clefting (EEC) Syndrome
EEC syndrome is an ectodermal dysplasia syndrome associated with ectrodactyly and cleft lip/palate.
At least three distinctive EEC loci identified
EEC2 (chromosome 19 pericentromeric region)
Molecular basis of EEC
Causative mutations for EEC syndrome have only been identified in p63 with identification of heterozygous mutations in the DNA-binding domain of the p63 gene at 3q27
The p63 protein
A member of the p53 family
Implicated in apoptosis rather than tumor suppression. Increased susceptibility for cancer development has not been shown in patients with EEC syndrome.
Pathogenic mutations in the TP63...
KeywordsRenal Agenesis Ectodermal Dysplasia Central Diabetes Insipidus Choanal Atresia Orofacial Cleft
- Annerén, G., Andersson, T., Lindgren, P. G., et al. (1991). Ectrodactyly-ectodermal dysplasia-clefting syndrome (EEC): The clinical variation and prenatal diagnosis. Clinical Genetics, 40, 2570262.Google Scholar
- Clements, S. E., Techanukul, T., Coman, D., et al. (2010). Molecular basis of EEC (ectrodactyly, ectodermal dysplasia, clefting) syndrome: Five new mutations in the DNA-binding domain of the TP63 gene and genotype-phenotype correlation. British Journal of Dermatology, 162, 201–207.PubMedCrossRefGoogle Scholar
- O’Quinn, J. R., Hennekam, R. C., Jorde, L. B., et al. (1992). Syndromic ectrodactyly with severe limb, ectodermal, urogenital, and palatal defects maps to chromosome 19. American Journal of Medical Genetics, 62, 130–135.Google Scholar