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Phenotypic heterogeneity and mutational spectrum in a cohort of 45 Italian males subjects with X‐linked ectodermal dysplasia |
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| Authors: | 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 |
| Affiliation: | 1. Department of Pediatrics, University of Milan, Luigi Sacco Hospital, Milan, Italy;2. Centre for Inherited Cutaneous Diseases, Pediatric Dermatology Unit, Department of Anesthesiologic and Dermatologic Sciences, IRCCS Ca' Granda Policlinico Hospital, Milan, Italy;3. Department of Maxillo‐Facial Surgery Orthodontic Unit, IRCCS Galeazzi, Milan, Italy;4. Medical Genetics Unit, Meyer Children's University Hospital, Florence, Italy;5. Medical Genetics Section, Department of Clinical Pathophysiology, University of Florence, Florence, Italy;6. Department of Eye and Vision Science, Institute of Ageing and Chronic Disease, University of Liverpool, Liverpool, UK;7. Institute for Maternal and Child Health, IRCCS “Burlo Garofolo”, Trieste, Italy;8. Department of Otorhinolaryngology, University of Milan, Luigi Sacco Hospital, Milan, Italy;9. Department of Ophthalmology, University of Milan, Luigi Sacco Hospital, Milan, Italy |
| 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. |
| Keywords: | ED1 gene genotype X‐linked hypohidrotic ectodermal dysplasia phenotype |