scholarly journals A Gene for Autosomal Dominant Hypohidrotic Ectodermal Dysplasia (EDA3) Maps to Chromosome 2q11-q13

1998 ◽  
Vol 62 (5) ◽  
pp. 1102-1106 ◽  
Author(s):  
Lingling Ho ◽  
Marc S. Williams ◽  
Richard A. Spritz
Keyword(s):  
Autosomal Dominant ◽  
Ectodermal Dysplasia ◽  
Hypohidrotic Ectodermal Dysplasia

The novel EDAR p.L397H missense mutation causes autosomal dominant hypohidrotic ectodermal dysplasia

2016 ◽  
Vol 31 (1) ◽  
pp. e17-e20 ◽  
Author(s):  
A.K. Chaudhary ◽  
R. Mohapatra ◽  
H.A. Nagarajaram ◽  
P. Ranganath ◽  
A. Dalal ◽  
...  
Keyword(s):  
Missense Mutation ◽  
Autosomal Dominant ◽  
Ectodermal Dysplasia ◽  
The Novel ◽  
Hypohidrotic Ectodermal Dysplasia

scholarly journals EDAR mutation in autosomal dominant hypohidrotic ectodermal dysplasia in two Swedish families

2006 ◽  
Vol 7 (1) ◽  
Author(s):  
Lisbet K Lind ◽  
Christina Stecksén-Blicks ◽  
Kristina Lejon ◽  
Marcus Schmitt-Egenolf
Keyword(s):  
Autosomal Dominant ◽  
Ectodermal Dysplasia ◽  
Hypohidrotic Ectodermal Dysplasia

Autosomal dominant hypohidrotic ectodermal dysplasia in a large family

1997 ◽  
Vol 72 (4) ◽  
pp. 462-467 ◽  
Author(s):  
Andrew L. Aswegan ◽  
Kevin D. Josephson ◽  
Rodney Mowbray ◽  
Richard M. Pauli ◽  
Richard A. Spritz ◽  
...  
Keyword(s):  
Autosomal Dominant ◽  
Ectodermal Dysplasia ◽  
Large Family ◽  
Hypohidrotic Ectodermal Dysplasia

Autosomal-dominant hypohidrotic ectodermal dysplasia caused by a novel mutation

2008 ◽  
Vol 22 (12) ◽  
pp. 1508-1510 ◽  
Author(s):  
F Valcuende-Cavero ◽  
F Martinez ◽  
G Pérez-Pastor ◽  
S Oltra ◽  
I Ferrer ◽  
...  
Keyword(s):  
Autosomal Dominant ◽  
Ectodermal Dysplasia ◽  
Novel Mutation ◽  
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.

Sign in / Sign up

Export Citation Format

Share Document