PMID- 21990121
OWN - NLM
STAT- MEDLINE
DCOM- 20120209
LR  - 20200930
IS  - 1552-4833 (Electronic)
IS  - 1552-4825 (Linking)
VI  - 155A
IP  - 11
DP  - 2011 Nov
TI  - 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.
PG  - 2746-9
LID - 10.1002/ajmg.a.34270 [doi]
AB  - 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.
CI  - Copyright (c) 2011 Wiley Periodicals, Inc.
FAU - Prontera, Paolo
AU  - Prontera P
AD  - Medical Genetics Unit, Department of Clinical and Experimental Medicine, 
      University of Perugia, Perugia, Italy.
FAU - Garelli, Emanuela
AU  - Garelli E
FAU - Isidori, Ilenia
AU  - Isidori I
FAU - Mencarelli, Amedea
AU  - Mencarelli A
FAU - Carando, Adriana
AU  - Carando A
FAU - Silengo, Margherita Cirillo
AU  - Silengo MC
FAU - Donti, Emilio
AU  - Donti E
LA  - eng
PT  - Case Reports
PT  - Journal Article
DEP - 20111011
PL  - United States
TA  - Am J Med Genet A
JT  - American journal of medical genetics. Part A
JID - 101235741
RN  - 0 (TP63 protein, human)
RN  - 0 (Transcription Factors)
RN  - 0 (Tumor Suppressor Proteins)
RN  - Limb-mammary syndrome
RN  - Propping Zerres syndrome
RN  - Zlotogora-Ogur syndrome
SB  - IM
MH  - Abbreviations as Topic
MH  - Adult
MH  - Anodontia/*genetics
MH  - Breast/abnormalities
MH  - Cleft Lip/genetics
MH  - Cleft Palate/*genetics
MH  - DNA Mutational Analysis
MH  - Ectodermal Dysplasia/*genetics
MH  - Genetic Testing
MH  - Heterozygote
MH  - Humans
MH  - Intellectual Disability/genetics
MH  - Lacrimal Duct Obstruction/*genetics
MH  - Limb Deformities, Congenital/*genetics
MH  - Male
MH  - Mutation
MH  - Nails, Malformed/*genetics
MH  - Phenotype
MH  - Pigmentation Disorders/*genetics
MH  - Syndactyly/genetics
MH  - Transcription Factors/*genetics
MH  - Tumor Suppressor Proteins/*genetics
EDAT- 2011/10/13 06:00
MHDA- 2012/02/10 06:00
CRDT- 2011/10/13 06:00
PHST- 2011/03/17 00:00 [received]
PHST- 2011/07/25 00:00 [accepted]
PHST- 2011/10/13 06:00 [entrez]
PHST- 2011/10/13 06:00 [pubmed]
PHST- 2012/02/10 06:00 [medline]
AID - 10.1002/ajmg.a.34270 [doi]
PST - ppublish
SO  - Am J Med Genet A. 2011 Nov;155A(11):2746-9. doi: 10.1002/ajmg.a.34270. Epub 2011 
      Oct 11.