Ectrodactyly-ectodermal dysplasia-cleft syndrome (EEC syndrome) with a developmental delay caused by R304W mutation in the tp63 gene.

Abstract

Ectrodactyly-ectodermal dysplasia-cleft syndrome (EEC) results from a simultaneous developmental abnor-caused by mutations of the tp63 gene. Five mutations: 204, 227, 279, 280, and 304 account for most cases of this syndrome. A case with R304W mutation, characterized by the presence of all major (ectrodactyly, ectodermal dysplasia, cleft lip and palate) and two minor (lacrimal duct obstruction, developmental delay) clinical symptoms of the syndrome is presented. This severe case improves the existing knowledge concerning the genotype-phenotype correlations in EEC syndrome.

• Authors: Elzbieta Gawrych, Agnieszka Bińczak-Kuleta, Joanna Janiszewska-Olszowska, Andrzej Ciechanowicz
• Journal: Annales Academiae Medicae Stetinensis (Ann Acad Med Stetin) Vol. 59 Issue 1 Pg. 11-4 ( 2013) ISSN: 1427-440X [Print] Poland
• PMID: 24734328 (Publication Type: Case Reports, Journal Article)

Chemical References

• TP63 protein, human
• Transcription Factors
• Tumor Suppressor Proteins

Topics

• Cleft Lip (diagnosis, genetics)
• Cleft Palate (diagnosis, genetics)
• Ectodermal Dysplasia (diagnosis, genetics)
• Female
• Humans
• Infant, Newborn
• Mutation
• Transcription Factors (genetics)
• Tumor Suppressor Proteins (genetics)