Estudio clínico y molecular en una familia con displasia ectodérmica hipohidrótica autosómica dominante

Translated title of the contribution: Clinical and molecular study in a family with autosomal dominant hypohidrotic ectodermal dysplasia

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

Research output: Contribution to journalArticlepeer-review

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.

Translated title of the contributionClinical and molecular study in a family with autosomal dominant hypohidrotic ectodermal dysplasia
Original languageSpanish
Pages (from-to)e34-e38
JournalArchivos Argentinos de Pediatria
Volume115
Issue number1
DOIs
Publication statusPublished - Feb 1 2017

Keywords

  • C.1072C T
  • Ectodermal dysplasia
  • Ectodermal dysplasia hypohidrotic autosomal dominant inheritance
  • Edar receptor
  • P.Arg358X

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Medicine(all)

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