title: 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.
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: Medical Genetics Unit, Department of Clinical and Experimental Medicine, University of Perugia, Perugia, Italy.
authors: Paolo
authors: P
authors: Prontera
authors: Emanuela
authors: E
authors: Garelli
authors: Ilenia
authors: I
authors: Isidori
authors: Amedea
authors: A
authors: Mencarelli
authors: Adriana
authors: A
authors: Carando
authors: Margherita Cirillo
authors: MC
authors: Silengo
authors: Emilio
authors: E
authors: Donti
mesh_terms: D000004:Abbreviations as Topic; D000328:Adult; D000848:Anodontia / Q000235:genetics*; D001940:Breast / Q000002:abnormalities; D002971:Cleft Lip / Q000235:genetics; D002972:Cleft Palate / Q000235:genetics*; D004252:DNA Mutational Analysis; D004476:Ectodermal Dysplasia / Q000235:genetics*; D005820:Genetic Testing; D006579:Heterozygote; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics; D007767:Lacrimal Duct Obstruction / Q000235:genetics*; D017880:Limb Deformities, Congenital / Q000235:genetics*; D008297:Male; D009154:Mutation; D009264:Nails, Malformed / Q000235:genetics*; D010641:Phenotype; D010859:Pigmentation Disorders / Q000235:genetics*; D013576:Syndactyly / Q000235:genetics; D014157:Transcription Factors / Q000235:genetics*; D025521:Tumor Suppressor Proteins / Q000235:genetics*
chemical_list: C115051:TP63 protein, human; D014157:Transcription Factors; D025521:Tumor Suppressor Proteins