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Journal Article

Journal Article

A novel EDA variant causing X-linked hypohidrotic ectodermal dysplasia: Case report  [2021]

Baiba Alksere (iVF Riga Clinic, Latvia; Riga Stradins University, Latvia; Corresponding author at: iVF Riga Clinic, Latvia.); Liene Kornejeva (iVF Riga Clinic, Latvia; Riga Maternity Hospital, Latvia); Ieva Grinfelde (iVF Riga Clinic, Latvia; Children's Clinical University Hospital, Latvia); Aigars Dzalbs (iVF Riga Clinic, Latvia; Children's Clinical University Hospital, Latvia); et al.

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Hereditary ectodermal dysplasias are a complex group of inherited disorders characterised by abnormalities in two or more ectodermal derivatives (skin, nails, sweat glands, etc.). There are two main types of these disorders – hidrotic and hypohidrotic/anhidrotic ectodermal dysplasias. Hypohidrotic ectodermal dysplasia (HED) or Christ-Siemens-Touraine syndrome (OMIM: 305100) occurs in 1 out of 5000–10,000 births [19] and has an X-linked recessive inheritance pattern (X-linked hypohydrotic ectodermal dysplasia – XLHED) [2].The main cause of XLHED is a broad range of pathogenic variants in the EDA gene (HGNC:3157, Xq12-13) which encodes the transmembrane protein ectodysplasin-A [4]. We report here the case of a patient with a novel inherited allelic variant in the EDA gene – NM_001399.5:c.337C>T (p.Gln113*) – in the heterozygous state. Targeted family member screening was conducted and other carriers of this EDA gene pathogenic variant were identified and phenotypically characterised. The patient subsequently underwent in vitro fertilisation with preimplantation genetic testing for monogenic diseases (PGT-M).
From the journal
Molecular Genetics and Metabolism Reports
ISSN : 2214-4269

Bibliographic information

Language:
English
Type:
Journal Article
In AGRIS since:
2022
Volume:
29
Issue:
1
Start Page:
100796
End Page:
473
Publisher:
Elsevier
All titles:
"A novel EDA variant causing X-linked hypohidrotic ectodermal dysplasia: Case report"@eng
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Bibliographic information

Language:
English
Type:
Journal Article
In AGRIS since:
2022
Volume:
29
Issue:
1
Start Page:
100796
End Page:
473
Publisher:
Elsevier
All titles:
"A novel EDA variant causing X-linked hypohidrotic ectodermal dysplasia: Case report"@eng