Biomaterial Database

[Clinical and molecular study in a family with autosomal dominant hypohidrotic ectodermal dysplasia]. 2017

Michele Callea, and Francisco Cammarata-Scalisi, and Colin E Willoughby, and Sabrina R Giglio, and Ilaria Sani, and Sara Bargiacchi, and Giovanna Traficante, and Emanuele Bellacchio, and Gianluca Tadini, and Izzet Yavuz, and Angela Galeotti, and Gabriella Clarich

Unit of Dentistry, Bambino Gesù Children's Hospital, (IRCCS), Rome, Italy. mcallea@gmail.com.

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.

UI	MeSH Term	Description	Entries
D008297	Male		Males
D009154	Mutation	Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations.	Mutations
D010375	Pedigree	The record of descent or ancestry, particularly of a particular condition or trait, indicating individual family members, their relationships, and their status with respect to the trait or condition.	Family Tree,Genealogical Tree,Genealogic Tree,Genetic Identity,Identity, Genetic,Family Trees,Genealogic Trees,Genealogical Trees,Genetic Identities,Identities, Genetic,Tree, Family,Tree, Genealogic,Tree, Genealogical,Trees, Family,Trees, Genealogic,Trees, Genealogical
D002675	Child, Preschool	A child between the ages of 2 and 5.	Children, Preschool,Preschool Child,Preschool Children
D006801	Humans	Members of the species Homo sapiens.	Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D053339	Edar Receptor	A ectodysplasin receptor subtype that is specific for ECTODYSPLASIN A1. It signals via the specific signaling adaptor EDAR-ASSOCIATED DEATH DOMAIN PROTEIN. Loss of function of the edar receptor is associated with AUTOSOMAL RECESSIVE ANHIDROTIC ECTODERMAL DYSPLASIA and ECTODERMAL DYSPLASIA 3, ANHIDROTIC.	Receptors, Edar,Tumor Necrosis Factor Receptor Superfamily, Member EDAR,Ectodysplasin 1, Anhidrotic Receptor,Ectodysplasin A1 Receptor,Edar Receptors,Receptor, Ectodysplasin A1,Receptor, Edar
D053358	Ectodermal Dysplasia 1, Anhidrotic	An X-linked form of ectodermal dysplasia which results from mutations of the gene encoding ECTODYSPLASIN.	Christ-Siemens-Touraine Syndrome,Anhidrotic Ectodermal Dysplasia, X-Linked,Anhydrotic Ectodermal Dysplasia, X-Linked,CST Syndrome,Ectodermal Dysplasia 1,Ectodermal Dysplasia 1, Anhydrotic,Ectodermal Dysplasia, Anhidrotic, X-Linked,Ectodermal Dysplasia, Hypohidrotic, X-Linked,Ectodermal Dysplasia, Hypohydridic, X-Linked,Hypohidrotic Ectodermal Dysplasia,X-Linked Hypohydridic Ectodermal Dysplasia,Anhidrotic Ectodermal Dysplasia, X Linked,Anhydrotic Ectodermal Dysplasia, X Linked,CST Syndromes,Christ Siemens Touraine Syndrome,Dysplasia 1, Ectodermal,Ectodermal Dysplasia 1s,Syndrome, CST,Syndromes, CST,X Linked Hypohydridic Ectodermal Dysplasia