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International research symposium on ankyloblepharon-ectodermal defects-cleft lip/palate (AEC) syndrome
Open accessAbstract
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.
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AEC syndrome is an autosomal dominant disorder caused by mutations in the N-terminal domain of TP63.
“Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome, also known as Hay–Wells syndrome, is an autosomal dominant disorder that is caused by mutations in the N-terminal domain of TP63.[54]”
From Ectodermal Dysplasia – An Overview and Update (2024) · cites this paper as [54]
The Abstract identifies AEC as an autosomal dominant disorder caused by p63 mutations. But the symposium presentation “AEC syndrome, Rapp-Hodgkin Syndrome and the Tail of p63” places the AEC-associated mutations mainly in the SAM domain within the tail region of p63, contrary to the claimed N-terminal location. Page numbers are not provided in our copy. (LLM, conf=0.90)
Checked by a reasoning model — may be wrong.
Experimental — accuracy not yet measuredThe characteristic feature of AEC syndrome is ankyloblepharon filiforme adnatum (fusion of the eyelids).
“The characteristic feature is ankyloblepharon filiforme adnatum (fusion of the eyelids).[54]”
From Ectodermal Dysplasia – An Overview and Update (2024) · cites this paper as [54]
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Citations
Cites
Cross-regulation between Notch and p63 in keratinocyte commitment to differentiationPreprint
Nguyen, B.-C., Lefort, K., Mandinova, A., Antonini, D., Devgan, V., Gatta, G. D., Koster, M. I., Zhang, Z., Wang, J., di Vignano, A. T., et al. (2006) · Genes & Development · doi:10.1101/gad.1406006 · Cited by 384
Self-citationHay-Wells syndrome is caused by heterozygous missense mutations in the SAM domain of p63
McGrath, J. A. (2001) · Human Molecular Genetics · doi:10.1093/hmg/10.3.221 · Cited by 382
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Self-citationp63 induces key target genes required for epidermal morphogenesis
Koster, M. I., Dai, D., Marinari, B., Sano, Y., Costanzo, A., Karin, M., & Roop, D. R. (2007) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0611376104 · Cited by 234
Self-citationThe role of p63 in development and differentiation of the epidermis
Koster, M. I., & Roop, D. R. (2003) · Journal of Dermatological Science · doi:10.1016/j.jdermsci.2003.10.003 · Cited by 183
Self-citationThe p63 gene in EEC and other syndromes
Brunner, H. G., Hamel, B. C. J., & van Bokhoven, H. (2002) · Journal of Medical Genetics · doi:10.1136/jmg.39.6.377 · Cited by 179
Pattern of p63 mutations and their phenotypes—update
Rinne, T., Hamel, B. C. J., van Bokhoven, H., & Brunner, H. G. (2006) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.31271 · Cited by 165
Identification of TFB5, a new component of general transcription and DNA repair factor IIH
Ranish, J. A., Hahn, S., Lu, Y., Yi, E. C., Li, X., Eng, J. K., & Aebersold, R. H. (2004) · Nature Genetics · doi:10.1038/ng1385 · Cited by 150
Fomenkov, A. I., Huang, Y., Topaloglu, Ö., Brechman, A., Osada, M., Fomenkova, T. E., Yuriditsky, E., Trink, B., Sidransky, D., & Ratovitski, E. A. (2003) · Journal of Biological Chemistry · doi:10.1074/jbc.m300746200 · Cited by 90
Self-citationDermatologic findings of ankyloblepharon‐ectodermal defects‐cleft lip/palate (AEC) syndrome
Julapalli, M. R., Scher, R. K., Sybert, V. P., Siegfried, E. C., & Bree, A. F. (2009) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.32797 · Cited by 67
Self-citationRinne, T., Bolat, E., Meijer, R., Scheffer, H., & van Bokhoven, H. (2009) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.32793 · Cited by 60
Self-citationTransgenic Mouse Models Provide New Insights into the Role of p63 in Epidermal Development
Koster, M. I., & Roop, D. R. (2004) · Cell Cycle · doi:10.4161/cc.3.4.793 · Cited by 44
Self-citationΔNp63 knockdown mice: A mouse model for AEC syndrome
Koster, M. I., Marinari, B., Payne, A. S., Kantaputra, P. N., Costanzo, A., & Roop, D. R. (2009) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.32794 · Cited by 44
Self-citationA New Perp in the Lineup: Linking p63 and Desmosomal Adhesion
Ihrie, R. A., & Attardi, L. D. (2005) · Cell Cycle · doi:10.4161/cc.4.7.1836 · Cited by 41
Self-citationVariable expression in ankyloblepharon–ectodermal defects–cleft lip and palate syndrome
Greene, S. L., Michels, V. V., Doyle, J. A., et al. (1987) · American Journal of Medical Genetics · doi:10.1002/ajmg.1320270123 · Cited by 40
Dishop, M. K., Bree, A. F., & Hicks, J. M. (2009) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.32826 · Cited by 38
Self-citationSkin Erosions and Wound Healing in Ankyloblepharon–Ectodermal Defect–Cleft Lip and/or Palate
Siegfried, E. C., Bree, A. F., Fete, M. D., & Sybert, V. P. (2005) · Archives of Dermatology · doi:10.1001/archderm.141.12.1591 · Cited by 38
Self-citationp63 Deficiency: A Failure of Lineage Commitment or Stem Cell Maintenance?
Koster, M. I., Kim, S., & Roop, D. R. (2005) · Journal of Investigative Dermatology Symposium Proceedings · doi:10.1111/j.1087-0024.2005.200416.x · Cited by 36
Self-citationDifferential PERP regulation by TP63 mutants provides insight into AEC pathogenesis
Beaudry, V. G., Pathak, N., Koster, M. I., & Attardi, L. D. (2009) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.32760 · Cited by 31
Self-citationSutton, V. R., Plunkett, K., Dang, D. X., Lewis, R. A., Bree, A. F., & Bacino, C. A. (2009) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.32791 · Cited by 31
Self-citationHuang, Y., Kim, Y., Li, Z., et al. (2005) · Cell Cycle · doi:10.4161/cc.4.10.2086 · Cited by 29
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Self-citationEctodermal dysplasia showing clinical overlap between AEC, Rapp-Hodgkin and CHAND syndromes
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Oral findings in ankyloblepharon‐ectodermal dysplasia‐cleft lip/palate (AEC) syndrome
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Motil, K. J., & Fete, T. J. (2009) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.32789 · Cited by 15
Psychosocial functioning and quality of life in children and families affected by AEC syndrome
Lane, M. M., Dalton, W. T., Sherman, S., Bree, A. F., & Czyzewski, D. I. (2009) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.32835 · Cited by 12
Self-citationBree, A. F. (2009) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.32788 · Cited by 8
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Research works printed but not linked: 1
- McKusickVA.1987.Ankyloblepharon‐ectodermal defects‐cleft lip/palate syndrome. Available online mendelian inheritance in man.http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=106260.
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Ectodermal Dysplasia – An Overview and Update
Dev, A., Malhi, K., & Mahajan, R. (2024) · Indian Dermatology Online Journal · doi:10.4103/idoj.idoj_599_23 · Cited by 19
“[54] Lacrimal puncta are often absent.”
Background
Metadata
- Authors
- 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., & Bree, A. F.
- Affiliations
- National Foundation for Ectodermal Dysplasias (US)
- Radboud University Nijmegen (NL)
- King's College London (GB)
- Harvard University (US)
- University of Colorado Denver (US)
- CEINGE Biotecnologie Avanzate Franco Salvatore (Italy) (IT)
- Stanford Medicine (US)
- Columbia University (US)
- Johns Hopkins University (US)
- Baylor College of Medicine (US)
- Rice University (US)
- University of Washington (US)
- Saint Louis University (US)
- Corresponding author
- Bree, Alanna F.
- ORCID
- Venue
- American Journal of Medical Genetics Part A
- Publisher
- Wiley
- Published
- 2009-04-07
- Volume
- 149A
- Issue
- 9
- Pages
- 1885-1893
- ISSN
- 1552-4825 (ISSN-L)
- 1552-4833
- PMC
- PMC2736474
- OpenAlex
- W2044672520
- Cited by
- 40
- References
- 28
- Citations by year
- 2026: 2 · 2025: 2 · 2024: 5 · 2023: 3 · 2022: 1 · 2021: 4 · 2020: 3 · 2019: 3 · 2018: 1 · 2017: 1 · 2016: 2 · 2014: 3 · 2013: 2 · 2012: 3
- FWCI
- 1.56
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Locations
- American Journal of Medical Genetics Part A (publishedVersion)
- PubMed (publishedVersion)
- Europe PMC (PubMed Central) (acceptedVersion)
- PubMed Central (acceptedVersion)
- Radboud Repository (Radboud University) (submittedVersion)
- Funders
- National Foundation for Ectodermal Dysplasias
- Texas Children's Hospital
- National Institutes of Health
- National Institute of Arthritis and Musculoskeletal and Skin Diseases (R13AR054314, K99AR054696)
- Topics
- Health Sciences › Medicine › Dermatology › Genetic and rare skin diseases.
- Health Sciences › Dentistry › General Dentistry › dental development and anomalies
- Health Sciences › Dentistry › Oral Surgery › Cleft Lip and Palate Research
- Keywords
- Hay-Wells syndrome, TP63 mutations, diagnostic criteria
- MeSH terms
- Abnormalities, Multiple, Animals, Child, Child, Preschool, Cleft Lip, Cleft Palate, Ectodermal Dysplasia, Eyelids, Humans, Infant, Infant, Newborn, Mutation, Syndrome, Transcription Factors, Trans-Activators, Tumor Suppressor Proteins
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