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

doi:10.1111/cge.12404

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 journal › Article

11 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 language	English
Pages (from-to)	338-342
Journal	Clinical Genetics
Volume	87
Issue number	4
DOIs	https://doi.org/10.1111/cge.12404
Publication status	Accepted/In press - 11 Apr 2014

Keywords

ED1 gene
X-linked hypohidrotic ectodermal dysplasia
genotype
phenotype

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10.1111/cge.12404

http://uir.ulster.ac.uk/39689/1/Guazzarotti_et_al-2015-Clinical_Genetics.pdf

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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

Guazzarotti, L. ; Tadini, G. ; Mancini, G.E. ; Giglio, S. ; Willoughby, Colin ; Callea, M. ; Sani, I. ; Nannini, P. ; Mameli, C. ; Tenconi, A.A. ; Mauri, S. ; Bottero, A. ; Caimi, A. ; Morelli, M. ; Zuccotti, G.V. / Phenotypic heterogeneity and mutational spectrum in a cohort of 45 Italian males subjects with X-linked ectodermal dysplasia. In: Clinical Genetics. 2014 ; Vol. 87, No. 4. pp. 338-342.

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

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.",

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Guazzarotti, L, Tadini, G, Mancini, GE, Giglio, S, Willoughby, C, Callea, M, Sani, I, Nannini, P, Mameli, C, Tenconi, AA, Mauri, S, Bottero, A, Caimi, A, Morelli, M & Zuccotti, GV 2014, 'Phenotypic heterogeneity and mutational spectrum in a cohort of 45 Italian males subjects with X-linked ectodermal dysplasia', Clinical Genetics, vol. 87, no. 4, pp. 338-342. https://doi.org/10.1111/cge.12404

Phenotypic heterogeneity and mutational spectrum in a cohort of 45 Italian males subjects with X-linked ectodermal dysplasia. / Guazzarotti, L.; Tadini, G.; Mancini, G.E.; Giglio, S.; Willoughby, Colin; Callea, M.; Sani, I.; Nannini, P.; Mameli, C.; Tenconi, A.A.; Mauri, S.; Bottero, A.; Caimi, A.; Morelli, M.; Zuccotti, G.V.

In: Clinical Genetics, Vol. 87, No. 4, 11.04.2014, p. 338-342.

Research output: Contribution to journal › Article

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T1 - Phenotypic heterogeneity and mutational spectrum in a cohort of 45 Italian males subjects with X-linked ectodermal dysplasia

AU - Guazzarotti, L.

AU - Tadini, G.

AU - Mancini, G.E.

AU - Giglio, S.

AU - Willoughby, Colin

AU - Callea, M.

AU - Sani, I.

AU - Nannini, P.

AU - Mameli, C.

AU - Tenconi, A.A.

AU - Mauri, S.

AU - Bottero, A.

AU - Caimi, A.

AU - Morelli, M.

AU - Zuccotti, G.V.

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KW - phenotype

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