Novel EDA mutations cause X-linked hypohidrotic ectodermal dysplasia: the first study from Venezuela

Francisco Cammarata-Scalisi; Michele Callea; Ajay Kumar Chaudhary; Antonio Cárdenas Tadich; Maykol Araya Castillo; Antonino Morabito; Emanuele Bellacchio; Elisa Pisaneschi; Antonio Novelli; Colin E Willoughby; Murali Dharan Bashyam

doi:10.1093/ced/llad218

Novel EDA mutations cause X-linked hypohidrotic ectodermal dysplasia: the first study from Venezuela

Francisco Cammarata-Scalisi, Michele Callea, Ajay Kumar Chaudhary, Antonio Cárdenas Tadich, Maykol Araya Castillo, Antonino Morabito, Emanuele Bellacchio, Elisa Pisaneschi, Antonio Novelli, Colin E Willoughby, Murali Dharan Bashyam

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Abstract

Hypohidrotic/anhidrotic ectodermal dysplasia (HED) is a rare genetic disorder affecting ectodermal tissues mainly including hair, teeth, sweat glands, skin and nails. It exhibits X-linked (XLHED) as well as autosomal dominant or recessive modes of inheritance. In the first study conducted from Venezuela, we analyzed two XLHED cases exhibiting classical clinical symptoms and identified a novel hemizygous EDA deletion (c.111delG) in one and a novel missense likely pathogenic variant (p.Gly192Glu) in the other. The current study adds to the growing repertoire of disease-causing EDA mutations with important implications for genetic screening in the affected families.

Original language	English
Pages (from-to)	1409-1413
Number of pages	5
Journal	Clinical and Experimental Dermatology
Volume	48
Issue number	12
Early online date	28 Jun 2023
DOIs	https://doi.org/10.1093/ced/llad218
Publication status	Published online - 28 Jun 2023

Bibliographical note

Keywords

Ectodermal dysplasia
XLHED
EDA
Pathogenic variant

UN SDGs

This output contributes to the following UN Sustainable Development Goals (SDGs)

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Cammarata-Scalisi, F., Callea, M., Chaudhary, A. K., Cárdenas Tadich, A., Castillo, M. A., Morabito, A., Bellacchio, E., Pisaneschi, E., Novelli, A., Willoughby, C. E., & Bashyam, M. D. (2023). Novel EDA mutations cause X-linked hypohidrotic ectodermal dysplasia: the first study from Venezuela. Clinical and Experimental Dermatology, 48(12), 1409-1413. Advance online publication. https://doi.org/10.1093/ced/llad218

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title = "Novel EDA mutations cause X-linked hypohidrotic ectodermal dysplasia: the first study from Venezuela",

abstract = "Hypohidrotic/anhidrotic ectodermal dysplasia (HED) is a rare genetic disorder affecting ectodermal tissues mainly including hair, teeth, sweat glands, skin and nails. It exhibits X-linked (XLHED) as well as autosomal dominant or recessive modes of inheritance. In the first study conducted from Venezuela, we analyzed two XLHED cases exhibiting classical clinical symptoms and identified a novel hemizygous EDA deletion (c.111delG) in one and a novel missense likely pathogenic variant (p.Gly192Glu) in the other. The current study adds to the growing repertoire of disease-causing EDA mutations with important implications for genetic screening in the affected families.",

keywords = "Ectodermal dysplasia, XLHED, EDA, Pathogenic variant",

author = "Francisco Cammarata-Scalisi and Michele Callea and Chaudhary, {Ajay Kumar} and {C{\'a}rdenas Tadich}, Antonio and Castillo, {Maykol Araya} and Antonino Morabito and Emanuele Bellacchio and Elisa Pisaneschi and Antonio Novelli and Willoughby, {Colin E} and Bashyam, {Murali Dharan}",

note = "{\textcopyright} The Author(s) 2023. Published by Oxford University Press on behalf of British Association of Dermatologists. All rights reserved. For permissions, please e-mail: [email protected].",

year = "2023",

month = jun,

day = "28",

doi = "10.1093/ced/llad218",

language = "English",

volume = "48",

pages = "1409--1413",

journal = "Clinical and Experimental Dermatology",

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Cammarata-Scalisi, F, Callea, M, Chaudhary, AK, Cárdenas Tadich, A, Castillo, MA, Morabito, A, Bellacchio, E, Pisaneschi, E, Novelli, A, Willoughby, CE & Bashyam, MD 2023, 'Novel EDA mutations cause X-linked hypohidrotic ectodermal dysplasia: the first study from Venezuela', Clinical and Experimental Dermatology, vol. 48, no. 12, pp. 1409-1413. https://doi.org/10.1093/ced/llad218

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AU - Cammarata-Scalisi, Francisco

AU - Callea, Michele

AU - Chaudhary, Ajay Kumar

AU - Cárdenas Tadich, Antonio

AU - Castillo, Maykol Araya

AU - Morabito, Antonino

AU - Bellacchio, Emanuele

AU - Pisaneschi, Elisa

AU - Novelli, Antonio

AU - Willoughby, Colin E

AU - Bashyam, Murali Dharan

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AB - Hypohidrotic/anhidrotic ectodermal dysplasia (HED) is a rare genetic disorder affecting ectodermal tissues mainly including hair, teeth, sweat glands, skin and nails. It exhibits X-linked (XLHED) as well as autosomal dominant or recessive modes of inheritance. In the first study conducted from Venezuela, we analyzed two XLHED cases exhibiting classical clinical symptoms and identified a novel hemizygous EDA deletion (c.111delG) in one and a novel missense likely pathogenic variant (p.Gly192Glu) in the other. The current study adds to the growing repertoire of disease-causing EDA mutations with important implications for genetic screening in the affected families.

KW - Ectodermal dysplasia

KW - XLHED

KW - EDA

KW - Pathogenic variant

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Novel EDA mutations cause X-linked hypohidrotic ectodermal dysplasia: the first study from Venezuela

Abstract

Bibliographical note

Keywords

UN SDGs

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