EDA Gene | ScienceGate

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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EDA Gene Mutations Underlie Non-syndromic Oligodontia

Journal of Dental Research ◽

10.1177/0022034508328627 ◽

2009 ◽

Vol 88 (2) ◽

pp. 126-131 ◽

Cited By ~ 46

Author(s):

S. Song ◽

D. Han ◽

H. Qu ◽

Y. Gong ◽

H. Wu ◽

...

Keyword(s):

Gene Mutations ◽

Eda Gene

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

Cytogenetic and Genome Research ◽

10.1159/000478922 ◽

2017 ◽

Vol 152 (3) ◽

pp. 111-116 ◽

Cited By ~ 6

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.

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