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

Research output: Contribution to journalArticlepeer-review

20 Citations (Scopus)

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

Fingerprint

Dive into the research topics of 'Phenotypic heterogeneity and mutational spectrum in a cohort of 45 Italian males subjects with X-linked ectodermal dysplasia'. Together they form a unique fingerprint.

Cite this