title: [Clinical and molecular study in a family with autosomal dominant hypohidrotic ectodermal dysplasia].
abstract: Hypohidrotic ectodermal dysplasia (HED) is a rare disease characterized by deficiency in development of structure derived from the ectoderm and is caused by mutations in the genes EDA, EDAR, or EDARADD. Phenotypes caused by mutations in these three may exhibit similar clinical features, explained by a common signaling pathway. Mutations in EDA gene cause X linked HED, which is the most common form. Mutations in EDAR and EDARADD genes cause autosomal dominant and recessive form of HED. The most striking clinical findings in HED are hypodontia, hypotrichosis and hypohidrosis that can lead to episodes of hyperthermia. We report on clinical findings in a child with HED with autosomal dominant inheritance pattern with a heterozygous mutation c.1072C>T (p.Arg358X) in the EDAR gene. A review of the literature with regard to other cases presenting the same mutation has been carried out and discussed.
authors.affiliation: Unit of Dentistry, Bambino Gesù Children's Hospital, (IRCCS), Rome, Italy. mcallea@gmail.com.
authors.forename: Michele
authors.initials: M
authors.lastname: Callea
authors.affiliation: Unit of Medical Genetics, Department of Pediatrics, Faculty of Medicine, University of The Andes, Mérida, Venezuela.
authors.forename: Francisco
authors.initials: F
authors.lastname: Cammarata-Scalisi
authors.affiliation: University of Liverpool, Department of Eye and Vision Science, Institute of Ageing and Chronic Disease, Liverpool, United Kingdom.
authors.forename: Colin E
authors.initials: CE
authors.lastname: Willoughby
authors.affiliation: Medical Genetics Unit, University of Florence, Department of Biomedical Experimental and Clinical Sciences "Mario Serio", Florence, Italy.|Medical Genetics Unit, Meyer Children's University Hospital, Florence, Italy.
authors.forename: Sabrina R
authors.initials: SR
authors.lastname: Giglio
authors.affiliation: Medical Genetics Unit, University of Florence, Department of Biomedical Experimental and Clinical Sciences "Mario Serio", Florence, Italy.
authors.forename: Ilaria
authors.initials: I
authors.lastname: Sani
authors.affiliation: Medical Genetics Unit, University of Florence, Department of Biomedical Experimental and Clinical Sciences "Mario Serio", Florence, Italy.
authors.forename: Sara
authors.initials: S
authors.lastname: Bargiacchi
authors.affiliation: Medical Genetics Unit, University of Florence, Department of Biomedical Experimental and Clinical Sciences "Mario Serio", Florence, Italy.
authors.forename: Giovanna
authors.initials: G
authors.lastname: Traficante
authors.affiliation: Bambino Gesù Children's Hospital - IRCCS, Research Laboratory, Rome, Italy.
authors.forename: Emanuele
authors.initials: E
authors.lastname: Bellacchio
authors.affiliation: Pediatric Dermatology Unit and Pediatric Highly Intensive Care Unit, Department of Pathophysiology and Transplantation, University of Milan, Milan, Italy.|IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy.
authors.forename: Gianluca
authors.initials: G
authors.lastname: Tadini
authors.affiliation: Department of Pediatric Dentistry, Dicle University, Faculty of Dentistry, Diyarbakir, Turkey.
authors.forename: Izzet
authors.initials: I
authors.lastname: Yavuz
authors.affiliation: Unit of Dentistry, Bambino Gesù Children's Hospital, (IRCCS), Rome, Italy.
authors.forename: Angela
authors.initials: A
authors.lastname: Galeotti
authors.affiliation: Institute for Maternal and Child Health - IRCCS "Burlo Garofolo", Trieste, Italy.
authors.forename: Gabriella
authors.initials: G
authors.lastname: Clarich
mesh_terms: D002675:Child, Preschool; D053358:Ectodermal Dysplasia 1, Anhidrotic / Q000175:diagnosis* / Q000235:genetics*; D053339:Edar Receptor / Q000235:genetics; D006801:Humans; D008297:Male; D009154:Mutation; D010375:Pedigree
chemical_list: D053339:Edar Receptor
keywords: EDAR receptor; c.1072C>T; ectodermal dysplasia; ectodermal dysplasia hypohidrotic autosomal dominant inheritance; p.Arg358X