RGD Reference Report - 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. - Rat Genome Database

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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.

Authors: Clements, SE  Techanukul, T  Coman, D  Mellerio, JE  McGrath, JA 
Citation: Clements SE, etal., Br J Dermatol. 2010 Jan;162(1):201-7. doi: 10.1111/j.1365-2133.2009.09496.x. Epub 2009 Nov 9.
RGD ID: 11070288
Pubmed: PMID:19903181   (View Abstract at PubMed)
DOI: DOI:10.1111/j.1365-2133.2009.09496.x   (Journal Full-text)

Summary 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.

RGD Manual Disease Annotations    Click to see Annotation Detail View
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
EEC syndrome  IAGP 11070288DNA:missense mutations: :multipleRGD 
EEC syndrome  ISOTP63 (Homo sapiens)11070288; 11070288DNA:missense mutations: :multipleRGD 

Objects Annotated

Genes (Rattus norvegicus)
Tp63  (tumor protein p63)

Genes (Mus musculus)
Trp63  (transformation related protein 63)

Genes (Homo sapiens)
TP63  (tumor protein p63)


Additional Information