Phenotypic heterogeneity and mutational spectrum in a cohort of 45 Italian males subjects with X-linked ectodermal dysplasia

L. Guazzarotti, G. Tadini, G.E. Mancini, S. Giglio, Colin Willoughby, M. Callea, I. Sani, P. Nannini, C. Mameli, A.A. Tenconi, S. Mauri, A. Bottero, A. Caimi, M. Morelli, G.V. Zuccotti

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    Abstract

    Ectodermal dysplasias (EDs) are a group of genetic disorders characterized by the abnormal development of the ectodermal-derived structures. X-linked hypohidrotic ectodermal dysplasia, resulting from mutations in ED1 gene, is the most common form. The main purpose of this study was to characterize the phenotype spectrum in 45 males harboring ED1 mutations. The study showed that in addition to the involvement of the major ectodermal tissues, the majority of patients also have alterations of several minor ectodermal-derived structures. Characterizing the clinical spectrum resulting from ED1 gene mutations improves diagnosis and can direct clinical care.
    Original languageEnglish
    Pages (from-to)338-342
    JournalClinical Genetics
    Volume87
    Issue number4
    DOIs
    Publication statusAccepted/In press - 11 Apr 2014

    Keywords

    • ED1 gene
    • X-linked hypohidrotic ectodermal dysplasia
    • genotype
    • phenotype

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    Guazzarotti, L., Tadini, G., Mancini, G. E., Giglio, S., Willoughby, C., Callea, M., Sani, I., Nannini, P., Mameli, C., Tenconi, A. A., Mauri, S., Bottero, A., Caimi, A., Morelli, M., & Zuccotti, G. V. (Accepted/In press). Phenotypic heterogeneity and mutational spectrum in a cohort of 45 Italian males subjects with X-linked ectodermal dysplasia. Clinical Genetics, 87(4), 338-342. https://doi.org/10.1111/cge.12404