Ectodermal dysplasias 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 involvment of the major ectodermal tissues, the majority of patients also have alterations of several minor ectodermal-derived structures. Characterising the clinical spectrum resulting from ED1 gene mutations improves diagnosis and can direct clinical care.

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. - In: CLINICAL GENETICS. - ISSN 0009-9163. - 87:4(2015), pp. 338-342.

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

P. Nannini;C. Mameli;S. Mauri;A. Caimi;G.V. Zuccotti
Ultimo
2015

Abstract

Ectodermal dysplasias 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 involvment of the major ectodermal tissues, the majority of patients also have alterations of several minor ectodermal-derived structures. Characterising the clinical spectrum resulting from ED1 gene mutations improves diagnosis and can direct clinical care.
ED1 gene; genotype; X-linked hypohidrotic ectodermal dysplasia; phenotype
Settore MED/38 - Pediatria Generale e Specialistica
30-mag-2014
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/2434/236179
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