scholarly journals Two novel ectodysplasin A gene mutations and prenatal diagnosis of X‐linked hypohidrotic ectodermal dysplasia

2021 ◽  
Author(s):  
Kang Yu ◽  
Yihan Shen ◽  
Cai‐Ling Jiang ◽  
Wei Huang ◽  
Feng Wang ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Ectodermal Dysplasia ◽  
Gene Mutations ◽  
Hypohidrotic Ectodermal Dysplasia

Noninvasive Prenatal Diagnosis of Hypohidrotic Ectodermal Dysplasia by Tooth Germ Sonography

2014 ◽  
Vol 36 (04) ◽  
pp. 381-385 ◽  
Author(s):  
S. Wünsche ◽  
J. Jüngert ◽  
F. Faschingbauer ◽  
H. Mommsen ◽  
T. Goecke ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Ectodermal Dysplasia ◽  
Tooth Germ ◽  
Hypohidrotic Ectodermal Dysplasia ◽  
Noninvasive Prenatal Diagnosis

Two EDA gene mutations in chinese patients with hypohidrotic ectodermal dysplasia

2018 ◽  
Vol 32 (8) ◽  
pp. e324-e326 ◽  
Author(s):  
X. Feng ◽  
C. Weng ◽  
T. Wei ◽  
J. Sun ◽  
F. Huang ◽  
...  
Keyword(s):  
Ectodermal Dysplasia ◽  
Gene Mutations ◽  
Chinese Patients ◽  
Hypohidrotic Ectodermal Dysplasia ◽  
Eda Gene

scholarly journals Accuracy of prenatal diagnosis of X-linked hypohidrotic ectodermal dysplasia by tooth germ sonography

2018 ◽  
Author(s):  
F Faschingbauer ◽  
S Wohlfart ◽  
T Goecke ◽  
A Köninger ◽  
H Stepan ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Ectodermal Dysplasia ◽  
Tooth Germ ◽  
Hypohidrotic Ectodermal Dysplasia

Prenatal diagnosis of X-linked hypohidrotic ectodermal dysplasia by linkage analysis

1990 ◽  
Vol 35 (1) ◽  
pp. 132-135 ◽  
Author(s):  
Jonathan Zonana ◽  
Albert Schinzel ◽  
Meena Upadhyaya ◽  
Nicholas S. T. Thomas ◽  
Ingrun Anton-Lamprecht ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Linkage Analysis ◽  
Ectodermal Dysplasia ◽  
Hypohidrotic Ectodermal Dysplasia

A rare cause of fever of unknown origin: hypohidrotic ectodermal dysplasia with a splice site mutation

2018 ◽  
Vol 70 (5) ◽  
Author(s):  
Melahat M. Oguz ◽  
Meltem Akcaboy ◽  
Asuman Gurkan ◽  
Esma Altinel Acoglu ◽  
Pelin Zorlu ◽  
...  
Keyword(s):  
Splice Site ◽  
Fever Of Unknown Origin ◽  
Ectodermal Dysplasia ◽  
Splice Site Mutation ◽  
Unknown Origin ◽  
Hypohidrotic Ectodermal Dysplasia ◽  
Site Mutation

scholarly journals One Mutation of the ED1 Gene in a Chinese Han Family with X-Linked Hypohidrotic Ectodermal Dysplasia

2014 ◽  
Vol 26 (1) ◽  
pp. 111 ◽  
Author(s):  
Jing Wang ◽  
Wei-Wei Ha ◽  
Wen Wang ◽  
Hua-Yang Tang ◽  
Xian-Fa Tang ◽  
...  
Keyword(s):  
Ectodermal Dysplasia ◽  
Hypohidrotic Ectodermal Dysplasia ◽  
Chinese Han

scholarly journals 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?

2021 ◽  
Vol 47 (1) ◽  
Author(s):  
Mario Tumminello ◽  
Antonella Gangemi ◽  
Federico Matina ◽  
Melania Guardino ◽  
Bianca Lea Giuffrè ◽  
...  
Keyword(s):  
Ectodermal Dysplasia ◽  
Genetic Disorder ◽  
Missense Variant ◽  
Pathogenic Variant ◽  
Hypohidrotic Ectodermal Dysplasia ◽  
Variant Of Uncertain Significance ◽  
Uncertain Significance ◽  
Clinical Potential ◽  
Genomic Variant ◽  
Eda Gene

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.

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