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

Clements, S. E., Techanukul, T., Coman, D., Mellerio, J. E. and McGrath, J.A. (2009) 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 1: 201-207. doi:10.1111/j.1365-2133.2009.09496.x


Author Clements, S. E.
Techanukul, T.
Coman, D.
Mellerio, J. E.
McGrath, J.A.
Title 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
Journal name British Journal of Dermatology   Check publisher's open access policy
ISSN 0007-0963
1365-2133
Publication date 2009-11-09
Year available 2009
Sub-type Article (original research)
DOI 10.1111/j.1365-2133.2009.09496.x
Volume 162
Issue 1
Start page 201
End page 207
Total pages 7
Editor TO Bleiker
J English
Place of publication United Kingdom
Publisher Wiley-Blackwell Publishing
Collection year 2010
Language eng
Subject C1
920199 Clinical Health (Organs, Diseases and Abnormal Conditions) not elsewhere classified
110311 Medical Genetics (excl. Cancer Genetics)
Abstract EEC (ectrodactyly, ectodermal dysplasia, clefting; OMIM 604292) syndrome is an autosomal dominant developmental disorder. Characteristic clinical features comprise abnormalities in several ectodermal structures including skin, hair, teeth, nails and sweat glands as well as orofacial clefting and limb defects. Pathogenic mutations in the TP63 transcription factor have been identified as the molecular basis of EEC syndrome and to date 34 mutations have been reported. The majority of mutations involve heterozygous missense mutations in the DNA-binding domain of TP63, a region critical for direct interactions with DNA target sequences. In this report, we present an overview of EEC syndrome, discuss the role of TP63 in embryonic development and skin homeostasis, and report five new TP63 gene mutations. We highlight the significant intra- and interfamilial phenotypic variability in affected individuals and outline the emerging paradigm for genotype–phenotype correlation in this inherited ectodermal dysplasia syndrome.
Keyword ectodermal dysplasia
limb development
skin
transcription factor
Q-Index Code C1
Q-Index Status Confirmed Code

Document type: Journal Article
Sub-type: Article (original research)
Collections: 2010 Higher Education Research Data Collection
School of Medicine Publications
 
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Created: Tue, 30 Mar 2010, 14:33:27 EST by Melanie Thomas on behalf of Paediatrics & Child Health - RBWH