scholarly journals A Splice Defect in the EDA Gene in Dogs with an X-Linked Hypohidrotic Ectodermal Dysplasia (XLHED) Phenotype

2016 ◽  
Vol 6 (9) ◽  
pp. 2949-2954 ◽  
Author(s):  
Dominik P. Waluk ◽  
Gila Zur ◽  
Ronnie Kaufmann ◽  
Monika M. Welle ◽  
Vidhya Jagannathan ◽  
...  
Keyword(s):  
Ectodermal Dysplasia ◽  
Hypohidrotic Ectodermal Dysplasia ◽  
Splice Defect ◽  
Eda Gene

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.

X-Linked Hypohidrotic Ectodermal Dysplasia: New Features and a Novel EDA Gene Mutation

2017 ◽  
Vol 152 (3) ◽  
pp. 111-116 ◽  
Author(s):  
Salvatore Savasta ◽  
Giorgia Carlone ◽  
Riccardo Castagnoli ◽  
Francesca Chiappe ◽  
Francesco Bassanese ◽  
...  
Keyword(s):  
Gene Mutation ◽  
Ectodermal Dysplasia ◽  
Novel Mutation ◽  
Nucleotide Position ◽  
Hypohidrotic Ectodermal Dysplasia ◽  
Nasal Bridge ◽  
Mutation Database ◽  
Exon 1 ◽  
Male Karyotype ◽  
Eda Gene

We described a 5-year-old male with hypodontia, hypohidrosis, and facial dysmorphisms characterized by a depressed nasal bridge, maxillary hypoplasia, and protuberant lips. Chromosomal analysis revealed a normal 46,XY male karyotype. Due to the presence of clinical features of hypohidrotic ectodermal dysplasia (HED), the EDA gene, located at Xq12q13.1, of the patient and his family was sequenced. Analysis of the proband's sequence revealed a missense mutation (T to A transversion) in hemizygosity state at nucleotide position 158 in exon 1 of the EDA gene, which changes codon 53 from leucine to histidine, while heterozygosity at this position was detected in the slightly affected mother; moreover, this mutation was not found in the publically available Human Gene Mutation Database. To date, our findings indicate that a novel mutation in EDA is associated with X-linked HED, adding it to the repertoire of EDA mutations.

scholarly journals A novel de novo frame-shift mutation of the EDA gene in a Chinese Han family with hypohidrotic ectodermal dysplasia

2006 ◽  
Vol 51 (12) ◽  
pp. 1133-1137 ◽  
Author(s):  
Changzheng Huang ◽  
Qinbo Yang ◽  
Tie Ke ◽  
Haisheng Wang ◽  
Xu Wang ◽  
...  
Keyword(s):  
Ectodermal Dysplasia ◽  
De Novo ◽  
Hypohidrotic Ectodermal Dysplasia ◽  
Chinese Han ◽  
Frame Shift ◽  
Frame Shift Mutation ◽  
Eda Gene

Hypohidrotic ectodermal dysplasia caused by a missense mutation in the EDA gene

2011 ◽  
Vol 21 (5) ◽  
pp. 801-803
Author(s):  
Atsushi Fujimoto ◽  
Muhammad Farooq ◽  
Nobuyuki Sato ◽  
Yukiko Masui ◽  
Hiroki Fujikawa ◽  
...  
Keyword(s):  
Missense Mutation ◽  
Ectodermal Dysplasia ◽  
Hypohidrotic Ectodermal Dysplasia ◽  
Eda Gene

scholarly journals A novel mutation in the bovine <i>EDA</i> gene causing anhidrotic ectodermal dysplasia (Brief report)

2006 ◽  
Vol 49 (6) ◽  
pp. 615-616 ◽  
Author(s):  
C. Drögemüller ◽  
C. S. Barlund ◽  
C. W. Palmer ◽  
T. Leeb
Keyword(s):  
Ectodermal Dysplasia ◽  
Novel Mutation ◽  
Transmembrane Protein ◽  
Deleterious Mutations ◽  
Mouse Mutant ◽  
Hypohidrotic Ectodermal Dysplasia ◽  
Eccrine Glands ◽  
Anhidrotic Ectodermal Dysplasia ◽  
Necrosis Factor ◽  
Eda Gene

Abstract. X-linked anhidrotic ectodermal dysplasia (EDA), also called hypohidrotic ectodermal dysplasia (HED), represents a group of similar phenotypes described in humans, the tabby mouse mutant, dog, and cattle (KERE et al., 1996; SRIVASTAVA et al., 1997; CASAL et al., 2005; DRÖGEMÜLLER et al., 2001, 2002). EDA is characterised by the hypoplasia or absence of hair and eccrine glands in addition to dental abnormalities. Ectodysplasin A1 and A2, the two isoforms encoded by the EDA gene, are transmembrane protein members of the tumor necrosis factor (TNF) family and deleterious mutations in the human, murine, canine, and bovine EDA gene, respectively, result in manifestations of EDA.

A novel EDA gene mutation in a Spanish family with X-linked hypohidrotic ectodermal dysplasia

2011 ◽  
Vol 102 (9) ◽  
pp. 722-725
Author(s):  
J. Cañueto ◽  
M.I. Zafra-Cobo ◽  
S. Ciria ◽  
P. Unamuno ◽  
R. González-Sarmiento
Keyword(s):  
Gene Mutation ◽  
Ectodermal Dysplasia ◽  
Hypohidrotic Ectodermal Dysplasia ◽  
Spanish Family ◽  
Eda Gene
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