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

Baiba Alksere; Liene Kornejeva; Ieva Grinfelde; Aigars Dzalbs; Dace Enkure; Una Conka; Santa Andersone; Arita Blumberga; Liene Nikitina-Zake; Liga Kangare; Ilze Radovica-Spalvina; Inta Vasiljeva; Linda Gailite; Juris Erenpreiss; Violeta Fodina

doi:10.1016/j.ymgmr.2021.100796

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

Baiba Alksere (Corresponding Author), Liene Kornejeva, Ieva Grinfelde, Aigars Dzalbs, Dace Enkure, Una Conka, Santa Andersone, Arita Blumberga, Liene Nikitina-Zake, Liga Kangare, Ilze Radovica-Spalvina, Inta Vasiljeva, Linda Gailite, Juris Erenpreiss, Violeta Fodina

Rīga Stradiņš University

Research output: Contribution to journal › Article › peer-review

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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).

Original language	English
Article number	100796
Journal	Molecular Genetics and Metabolism Reports
Volume	29
DOIs	https://doi.org/10.1016/j.ymgmr.2021.100796
Publication status	Published - Dec 2021

Keywords*

Christ-Siemens-Touraine syndrome
Ectodermal dysplasia
EDA
PGT-M
X-linked recessive disorder
XLHED

Field of Science*

1.6 Biological sciences
3.1 Basic medicine
3.2 Clinical medicine

Publication Type*

1.1. Scientific article indexed in Web of Science and/or Scopus database

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10.1016/j.ymgmr.2021.100796Licence: CC BY-NC-ND

A novel EDA variant causing X-linked hypohidrotic ectodermal dysplasiaFinal published version, 1.27 MBLicence: CC BY-NC-ND

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Alksere, B., Kornejeva, L., Grinfelde, I., Dzalbs, A., Enkure, D., Conka, U., Andersone, S., Blumberga, A., Nikitina-Zake, L., Kangare, L., Radovica-Spalvina, I., Vasiljeva, I., Gailite, L., Erenpreiss, J., & Fodina, V. (2021). A novel EDA variant causing X-linked hypohidrotic ectodermal dysplasia: Case report. Molecular Genetics and Metabolism Reports, 29, Article 100796. https://doi.org/10.1016/j.ymgmr.2021.100796

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title = "A novel EDA variant causing X-linked hypohidrotic ectodermal dysplasia: Case report",

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).",

keywords = "Christ-Siemens-Touraine syndrome, Ectodermal dysplasia, EDA, PGT-M, X-linked recessive disorder, XLHED",

author = "Baiba Alksere and Liene Kornejeva and Ieva Grinfelde and Aigars Dzalbs and Dace Enkure and Una Conka and Santa Andersone and Arita Blumberga and Liene Nikitina-Zake and Liga Kangare and Ilze Radovica-Spalvina and Inta Vasiljeva and Linda Gailite and Juris Erenpreiss and Violeta Fodina",

note = "Publisher Copyright: {\textcopyright} 2021 The Authors",

year = "2021",

month = dec,

doi = "10.1016/j.ymgmr.2021.100796",

language = "English",

volume = "29",

journal = "Molecular Genetics and Metabolism Reports",

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Alksere, B, Kornejeva, L, Grinfelde, I, Dzalbs, A, Enkure, D, Conka, U, Andersone, S, Blumberga, A, Nikitina-Zake, L, Kangare, L, Radovica-Spalvina, I, Vasiljeva, I, Gailite, L , Erenpreiss, J & Fodina, V 2021, 'A novel EDA variant causing X-linked hypohidrotic ectodermal dysplasia: Case report', Molecular Genetics and Metabolism Reports, vol. 29, 100796. https://doi.org/10.1016/j.ymgmr.2021.100796

TY - JOUR

T1 - A novel EDA variant causing X-linked hypohidrotic ectodermal dysplasia

T2 - Case report

AU - Alksere, Baiba

AU - Kornejeva, Liene

AU - Grinfelde, Ieva

AU - Dzalbs, Aigars

AU - Enkure, Dace

AU - Conka, Una

AU - Andersone, Santa

AU - Blumberga, Arita

AU - Nikitina-Zake, Liene

AU - Kangare, Liga

AU - Radovica-Spalvina, Ilze

AU - Vasiljeva, Inta

AU - Gailite, Linda

AU - Erenpreiss, Juris

AU - Fodina, Violeta

PY - 2021/12

Y1 - 2021/12

N2 - 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).

AB - 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).

KW - Christ-Siemens-Touraine syndrome

KW - Ectodermal dysplasia

KW - EDA

KW - PGT-M

KW - X-linked recessive disorder

KW - XLHED

UR - http://www.scopus.com/inward/record.url?scp=85115031594&partnerID=8YFLogxK

U2 - 10.1016/j.ymgmr.2021.100796

DO - 10.1016/j.ymgmr.2021.100796

M3 - Article

C2 - 34584847

AN - SCOPUS:85115031594

SN - 2214-4269

VL - 29

JO - Molecular Genetics and Metabolism Reports

JF - Molecular Genetics and Metabolism Reports

M1 - 100796

ER -

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

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