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

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    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.
    Original languageEnglish
    JournalArchivos Argentinos de Pediatria
    Volume115
    Issue number1
    DOIs
    Publication statusAccepted/In press - 19 Sep 2016

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    Keywords

    • EDAR receptor
    • c.1072C>T
    • ectodermal dysplasia
    • ectodermal dysplasia hypohidrotic autosomal dominant inheritance
    • p.Arg358X

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