The National Foundation for Ectodermal Dysplasias (NFED) convened the “International Research Symposium on AEC Syndrome” on November 8–10, 2006 in Houston, TX. Grant funding was awarded for this symposium by the National Institute of Arthritis Musculoskeletal and Skin Diseases and the National Institutes of Health Office of Rare Diseases. The symposium was also funded by private donations to the NFED (see Appendix VI).
Article first published online: 7 APR 2009
Copyright © 2009 Wiley-Liss, Inc.
American Journal of Medical Genetics Part A
Special Issue: Ankyloblepharon-Ectodermal Defects-Cleft Lip and/or Palate Syndrome and Ectodermal Dysplasias
Volume 149A, Issue 9, pages 1885–1893, September 2009
How to Cite
Fete, M., vanBokhoven, H., Clements, S. E., McKeon, F., Roop, D. R., Koster, M. I., Missero, C., Attardi, L. D., Lombillo, V. A., Ratovitski, E., Julapalli, M., Ruths, D., Sybert, V. P., Siegfried, E. C. and Bree, A. F. (2009), International Research Symposium on Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate (AEC) Syndrome. Am. J. Med. Genet., 149A: 1885–1893. doi: 10.1002/ajmg.a.32761
How to cite this article: Fete M, vanBokhoven H, Clements SE, McKeon F, Roop DR, Koster MI, Missero C, Attardi LD, Lombillo VA, Ratovitski E, Julapalli M, Ruths D, Sybert VP, Siegfried EC, Bree AF. 2009. International Research Symposium on Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate (AEC) Syndrome. Am J Med Genet Part A 149A:1885–1893.
- Issue published online: 20 AUG 2009
- Article first published online: 7 APR 2009
- Manuscript Accepted: 2 JAN 2009
- Manuscript Received: 24 AUG 2008
- ectodermal dysplasia;
- congenital ectodermal defect;
- wound healing;
- tumor protein p63;
- bone morphogenetic protein;
- fibroblast growth factor;
- ectodysplasin a receptor;
- p53 apoptosis effector protein;
- activated protein kinase C;
- apobec-1-binding protein-1;
Ankyloblepharon-ectodermal defects-cleft lip/palate (AEC) syndrome (Hay–Wells syndrome, MIM #106220) is a rare autosomal dominant ectodermal dysplasia syndrome. It is due to mutations in the TP63 gene, known to be a regulatory gene with many downstream gene targets. TP63 is important in the differentiation and proliferation of the epidermis, as well as many other processes including limb and facial development. It is also known that mutations in TP63 lead to skin erosions. These erosions, especially on the scalp, are defining features of AEC syndrome and cause significant morbidity and mortality in these patients. It was this fact that led to the 2003 AEC Skin Erosion Workshop. That conference laid the groundwork for the International Research Symposium for AEC Syndrome held at Texas Children's Hospital in 2006. The conference brought together the largest cohort of individuals with AEC syndrome, along with a multitude of physicians and scientists. The overarching goals were to define the clinical and pathologic findings for improved diagnostic criteria, to obtain tissue samples for further study and to define future research directions. The symposium was successful in accomplishing these aims as detailed in this conference report. Following our report, we also present 11 manuscripts within this special section that outline the collective clinical, pathologic, and mutational data from 18 individuals enrolled in the concurrent Baylor College of Medicine IRB-approved protocol: Characterization of AEC syndrome. These collaborative findings will hopefully provide a stepping-stone to future translational projects of TP63 and TP63-related syndromes. © 2009 Wiley-Liss, Inc.