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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 A. 2011 Nov; 155A(11):2746-9.AJ

Abstract

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.

Authors+Show Affiliations

Medical Genetics Unit, Department of Clinical and Experimental Medicine, University of Perugia, Perugia, Italy.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

21990121

Citation

Prontera, Paolo, et al. "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." American Journal of Medical Genetics. Part A, vol. 155A, no. 11, 2011, pp. 2746-9.
Prontera P, Garelli E, Isidori I, et al. 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 A. 2011;155A(11):2746-9.
Prontera, P., Garelli, E., Isidori, I., Mencarelli, A., Carando, A., Silengo, M. C., & 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. American Journal of Medical Genetics. Part A, 155A(11), 2746-9. https://doi.org/10.1002/ajmg.a.34270
Prontera P, et al. 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 A. 2011;155A(11):2746-9. PubMed PMID: 21990121.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - 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. AU - Prontera,Paolo, AU - Garelli,Emanuela, AU - Isidori,Ilenia, AU - Mencarelli,Amedea, AU - Carando,Adriana, AU - Silengo,Margherita Cirillo, AU - Donti,Emilio, Y1 - 2011/10/11/ PY - 2011/03/17/received PY - 2011/07/25/accepted PY - 2011/10/13/entrez PY - 2011/10/13/pubmed PY - 2012/2/10/medline SP - 2746 EP - 9 JF - American journal of medical genetics. Part A JO - Am J Med Genet A VL - 155A IS - 11 N2 - 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. SN - 1552-4833 UR - https://wwww.unboundmedicine.com/medline/citation/21990121/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_ L2 - https://doi.org/10.1002/ajmg.a.34270 DB - PRIME DP - Unbound Medicine ER -