Novel insight into the ectodermal dysplasia 11A: Splicing variant of the EDARADD gene in a family with clinical variability and literature review.

Autor: Fazelzadeh Haghighi N; Dermatology Department, Shiraz University of Medical Sciences, Shiraz, Iran.; Molecular Dermatology Research Center, Shiraz University of Medical Sciences, Shiraz, Iran., Kamal N; Department of Medical Genetics, Shiraz University of Medical Sciences, Shiraz, Iran., Jafari Khamirani H; Department of Medical Genetics, Shiraz University of Medical Sciences, Shiraz, Iran., Fazelzadeh Haghighi M; Department of Molecular Medicine, School of Advanced Technologies, Shahrekord University of Medical Sciences, Shahrekord, Iran., Dastgheib SA; Department of Medical Genetics, Shiraz University of Medical Sciences, Shiraz, Iran., Dianatpour M; Department of Medical Genetics, Shiraz University of Medical Sciences, Shiraz, Iran.; Stem Cells Technology Research Center, Shiraz University of Medical Sciences, Shiraz, Iran., Tabei SMB; Department of Medical Genetics, Shiraz University of Medical Sciences, Shiraz, Iran.; Maternal-fetal Medicine Research Center, Shiraz University of Medical Sciences, Shiraz, Iran.
Jazyk: angličtina
Zdroj: The Journal of dermatology [J Dermatol] 2023 Oct; Vol. 50 (10), pp. 1357-1362. Date of Electronic Publication: 2023 Jun 02.
DOI: 10.1111/1346-8138.16849
Abstrakt: 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.
(© 2023 Japanese Dermatological Association.)
Databáze: MEDLINE
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