How to Cite this Article: Prontera P, Garelli E, Isidori I, Mencarelli A, Carando A, Silengo MC, Donti E. 2011. Cleft palate and ADULT phenotype in a patient with a novel TP63 mutation suggests lumping of EEC/LM/ADULT syndromes into a unique entity: ELA syndrome. Am J Med Genet Part A 155: 2746–2749.
Cleft palate and ADULT phenotype in a patient with a novel TP63 mutation suggests lumping of EEC/LM/ADULT syndromes into a unique entity: ELA syndrome†
Article first published online: 11 OCT 2011
Copyright © 2011 Wiley Periodicals, Inc.
American Journal of Medical Genetics Part A
Volume 155, Issue 11, pages 2746–2749, November 2011
How to Cite
Prontera, P., Garelli, E., Isidori, I., Mencarelli, A., Carando, A., Silengo, M. C. and Donti, E. (2011), Cleft palate and ADULT phenotype in a patient with a novel TP63 mutation suggests lumping of EEC/LM/ADULT syndromes into a unique entity: ELA syndrome. Am. J. Med. Genet., 155: 2746–2749. doi: 10.1002/ajmg.a.34270
- Issue published online: 20 OCT 2011
- Article first published online: 11 OCT 2011
- Manuscript Accepted: 25 JUL 2011
- Manuscript Received: 17 MAR 2011
- acro-dermato-ungual-lacrimal-tooth syndrome;
- ectrodactyly-ectodermal dysplasia-cleft lip/palate;
- limb-mammary syndrome;
- cleft palate;
- phenotypic variability;
- ELA syndrome
Acro-dermato-ungual-lacrimal-tooth (ADULT) syndrome is a rare condition belonging to the group of ectodermal dysplasias caused by TP63 mutations. Its clinical phenotype is similar to ectrodactyly-ectodermal dysplasia-cleft lip/palate (EEC) and limb-mammary syndrome (LMS), and differs from these disorders mainly by the absence of cleft lip and/or palate. We report on a 39-year-old patient who was found to be heterozygous for a c.401G > T (p.Gly134Val) de novo mutation of TP63. This patient had the ADULT phenotype associated with cleft palate. Our findings, rather than extend the clinical spectrum of ADULT syndrome, suggest that cleft palate can no longer be considered an element for differential diagnosis for ADULT, EEC, and LMS. Our data, added to other reports on overlapping phenotypes, support the combining of these three phenotypes into a unique entity that we propose to call “ELA syndrome,” which is an acronym of ectrodactyly-ectodermal dysplasia-cleft lip and palate, limb-mammary, and ADULT syndromes. © 2011 Wiley Periodicals, Inc.