| 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. | |
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MedLine Citation:
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PMID: 21990121 Owner: NLM Status: Publisher |
Abstract/OtherAbstract:
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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. |
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Authors:
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Paolo Prontera; Emanuela Garelli; Ilenia Isidori; Amedea Mencarelli; Adriana Carando; Margherita Cirillo Silengo; Emilio Donti |
Publication Detail:
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Type: JOURNAL ARTICLE Date: 2011-10-11 |
Journal Detail:
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Title: American journal of medical genetics. Part A Volume: - ISSN: 1552-4833 ISO Abbreviation: - Publication Date: 2011 Oct |
Date Detail:
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Created Date: 2011-10-12 Completed Date: - Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 101235741 Medline TA: Am J Med Genet A Country: - |
Other Details:
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Languages: ENG Pagination: - Citation Subset: - |
Copyright Information:
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Copyright © 2011 Wiley Periodicals, Inc. |
Affiliation:
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Medical Genetics Unit, Department of Clinical and Experimental Medicine, University of Perugia, Perugia, Italy. |
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From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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