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TP63 mutation and clefting modifier genes in an EEC syndrome family.

Authors: Ray, AK  Marazita, ML  Pathak, R  Beever, CL  Cooper, ME  Goldstein, T  Shaw, DF  Field, LL 
Citation: Ray AK, etal., Clin Genet. 2004 Sep;66(3):217-22.
Pubmed: (View Article at PubMed) PMID:15324320
DOI: Full-text: DOI:10.1111/j.1399-0004.2004.00287.x

Autosomal dominant EEC syndrome consists of ectrodactyly, ectodermal dysplasia, and cleft lip with or without cleft palate (CL/P). We investigated an EEC kindred with 10 affected persons in three generations in order to map the causative mutation in this family and to map modifier genes that contribute to the expression of facial clefting in the phenotype. DNA from 15 family members was genotyped for 388 genome screen markers. Analysis revealed maximal linkage between EEC and chromosome 3q27, which contains a known EEC gene - tumor protein 63 (TP63). Sequencing showed a CGT-->TGT missense mutation (R280C) in exon 7, previously reported to cause EEC in four families, and ectrodactyly alone (split hand-foot malformation) in one sporadic case and one large kindred. Analysis of the clefting phenotype in this EEC family demonstrated maximal linkage to two regions on chromosomes 4q and 14, which multiple studies have implicated in non-syndromic CL/P. In conclusion, this study demonstrates that the mutation of TP63 is the major (Mendelian) EEC gene in this kindred and suggests that additional minor modifying genes which predispose to non-syndromic CL/P could also contribute to the expression of the clefting component of the syndrome in this family.


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RGD Object Information
RGD ID: 11568075
Created: 2016-12-07
Species: All species
Last Modified: 2016-12-07
Status: ACTIVE


RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.