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, C. E. Willoughby, M. Callea, I. Sani, P. Nannini, C. Mameli, A. A. Tenconi, S. Mauri, A. Bottero, A. Caimi, M. Morelli, G. V. Zuccotti

Research output: Contribution to journalArticlepeer-review

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
Number of pages5
JournalClinical Genetics
Volume87
Issue number4
DOIs
Publication statusPublished - Apr 1 2015

Keywords

  • ED1 gene
  • Genotype
  • Phenotype
  • X-linked hypohidrotic ectodermal dysplasia

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics
  • Medicine(all)

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