1. A novel EDA variant causing X-linked hypohidrotic ectodermal dysplasia: Case report
- Author
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Violeta Fodina, Linda Gailite, Inta Vasiljeva, Baiba Alksere, Liga Kangare, Juris Erenpreiss, Dace Enkure, Aigars Dzalbs, Liene Nikitina-Zake, Arita Blumberga, Liene Kornejeva, Ieva Grinfelde, Una Conka, Santa Andersone, and Ilze Radovica-Spalvina
- Subjects
Ectodermal dysplasia ,Medicine (General) ,QH301-705.5 ,Case Report ,Biology ,Endocrinology ,R5-920 ,Recessive inheritance ,Genetics ,medicine ,Hypohidrotic ectodermal dysplasia ,Allele ,Biology (General) ,Molecular Biology ,X-linked recessive inheritance ,Genetic testing ,medicine.diagnostic_test ,PGT-M ,XLHED ,medicine.disease ,Family member ,Christ-Siemens-Touraine syndrome ,Ectodysplasin A ,EDA ,X-linked recessive disorder - Abstract
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).
- Published
- 2021