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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
- Source :
- American journal of medical genetics. Part A. (11)
- Publication Year :
- 2011
-
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.
- Subjects :
- Male
DNA Mutational Analysis
medicine.disease_cause
acro-dermato-ungual-lacrimal-tooth syndrome
Ectodermal Dysplasia
Medicine
limb-mammary syndrome
Breast
Genetics (clinical)
EEC
ADULT
ectrodactyly-ectodermal dysplasia-cleft lip/palate
LMS
TP63
cleft palate
phenotypic variability
ELA syndrome
ADULTectrodactyly-ectodermal dysplasia-cleft lip/palate
Mutation
medicine.diagnostic_test
Anatomy
Phenotype
Acro–dermato–ungual–lacrimal–tooth syndrome
Cleft Palate
Adult
medicine.medical_specialty
Heterozygote
Cleft Lip
Limb Deformities, Congenital
Nails, Malformed
Limb–mammary syndrome
Intellectual Disability
Lacrimal Duct Obstruction
Genetics
Humans
Abbreviations as Topic
Genetic Testing
Genetic testing
Anodontia
business.industry
Tumor Suppressor Proteins
Heterozygote advantage
medicine.disease
Dermatology
stomatognathic diseases
Syndactyly
Differential diagnosis
business
Pigmentation Disorders
Transcription Factors
Subjects
Details
- ISSN :
- 15524833
- Issue :
- 11
- Database :
- OpenAIRE
- Journal :
- American journal of medical genetics. Part A
- Accession number :
- edsair.doi.dedup.....5b1120c9cfa747c70ff0c2ca05a36b20