Novel insight into the ectodermal dysplasia 11A: Splicing variant of the EDARADD gene in a family with clinical variability and literature review.
EDARADD
ECTD11A
NF-kB signaling pathway
hyperkeratotic plaque
pathogenic splicing variant
Journal
The Journal of dermatology
ISSN: 1346-8138
Titre abrégé: J Dermatol
Pays: England
ID NLM: 7600545
Informations de publication
Date de publication:
Oct 2023
Oct 2023
Historique:
revised:
03
05
2023
received:
09
01
2023
accepted:
14
05
2023
medline:
23
10
2023
pubmed:
3
6
2023
entrez:
3
6
2023
Statut:
ppublish
Résumé
Pathogenic variants in the EDARADD gene result in autosomal recessive and autosomal dominant ectodermal dysplasia. This article reports on the fourth family in the world with ectodermal dysplasia 11A (ECTD11A) cause from a novel splicing variant in the EDARADD gene, identified by whole exome sequencing and confirmed by Sanger sequencing. The proband and his mother were heterozygous for the detected variant (NM_145861.4:c.161-2A>T). The proband manifests unusual symptoms including hyperkeratotic plaques, slow-growing hair, recurrent infection, and pectus excavatum. His mother presents hypohidrosis, extensive tooth decay, fragile nails, and sparse hair. Further studies on ECTD11A patients could be useful to characterizing the phenotype features more precisely.
Identifiants
pubmed: 37269152
doi: 10.1111/1346-8138.16849
doi:
Substances chimiques
Edar Receptor
0
EDARADD protein, human
0
Edar-Associated Death Domain Protein
0
Types de publication
Review
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
1357-1362Informations de copyright
© 2023 Japanese Dermatological Association.
Références
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