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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
Author(s) -
Prontera Paolo,
Garelli Emanuela,
Isidori Ilenia,
Mencarelli Amedea,
Carando Adriana,
Silengo Margherita Cirillo,
Donti Emilio
Publication year - 2011
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.34270
Subject(s) - ectrodactyly , ectodermal dysplasia , phenotype , medicine , dysplasia , mutation , differential diagnosis , dermatology , genetics , pathology , biology , gene
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.