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

    Research output: Contribution to journalArticle

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

    Fingerprint

    Anhidrotic Ectodermal Dysplasia 1
    Mutation
    Anhidrotic Ectodermal Dysplasia 3
    Hypotrichosis
    Hypohidrosis
    Anodontia
    Genes
    Inheritance Patterns
    X-Linked Genes
    Ectoderm
    Rare Diseases
    Fever
    Phenotype

    Keywords

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

    Cite this

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    title = "Estudio cl{\'i}nico y molecular en una familia con displasia ectod{\'e}rmica hipohidr{\'o}tica autos{\'o}mica dominante",
    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.",
    keywords = "EDAR receptor, c.1072C>T, ectodermal dysplasia, ectodermal dysplasia hypohidrotic autosomal dominant inheritance, p.Arg358X",
    author = "Colin Willoughby",
    year = "2016",
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    day = "19",
    doi = "10.5546/aap.2017.e34",
    language = "English",
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    journal = "Archivos Argentinos de Pediatria",
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    T1 - Estudio clínico y molecular en una familia con displasia ectodérmica hipohidrótica autosómica dominante

    AU - Willoughby, Colin

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    N2 - 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.

    AB - 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.

    KW - EDAR receptor

    KW - c.1072C>T

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    KW - ectodermal dysplasia hypohidrotic autosomal dominant inheritance

    KW - p.Arg358X

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