Abstract

Background

Hypohidrotic Ectodermal Dysplasia (HED) is a genetic disorder which affects structures of ectodermal origin. X-linked hypohidrotic ectodermal dysplasia (XLHED) is the most common form of disease. XLHED is characterized by hypotrichosis, hypohydrosis and hypodontia. The cardinal features of classic HED become obvious during childhood.

Identification of a hemizygous EDA pathogenic variant in an affected male confirms the diagnosis.

Case presentation

We report on a male newborn with the main clinical characteristics of the X-linked HED including hypotrichosis, hypodontia and hypohidrosis. Gene panel sequencing identified a new hemizygous missense variant of uncertain significance (VUS) c.1142G > C (p.Gly381Ala) in the EDA gene, located on the X chromosome and inherited from the healthy mother.

Conclusion

Despite the potential functional impact of VUS remains uncharacterized, our goal is to evaluate the clinical potential consequences of missense VUS on EDA gene. Even if the proband’s phenotype is characteristic for classic HED, further reports of patients with same clinical phenotype and the same genomic variant are needed to consider this novel VUS as responsible for the development of HED.

Details

Title
First report of X-linked hypohidrotic ectodermal dysplasia with a hemizygous c.1142G > C in the EDA gene: variant of uncertain significance or new pathogenic variant?
Author
Tumminello, Mario; Gangemi, Antonella; Matina, Federico; Guardino, Melania; Giuffrè, Bianca Lea; Corsello, Giovanni
Pages
1-5
Section
Case report
Publication year
2021
Publication date
2021
Publisher
BioMed Central
ISSN
17208424
e-ISSN
18247288
Source type
Scholarly Journal
Language of publication
English
ProQuest document ID
2543500988
Copyright
© 2021. This work is licensed under http://creativecommons.org/licenses/by/4.0/ (the “License”). Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License.