Clinical and molecular features of four families with CLDN10-related HELIX syndrome.

Autor: Qudair A; Department of Medical Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia. Electronic address: AQudair@kfshrc.edu.sa., Hussein M; Department of Medicine, INOVA Fairfax Hospital, 3300 Gallows Rd., Falls Church, VA, 22042, United States., Alowain M; Department of Medical Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia., Al-Hassnan ZN; Department of Medical Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia., Alfaifi A; Department of Pediatrics, Security Forces Hospital, Riyadh, Saudi Arabia., Alfalah A; Department of Medical Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia; Department of Pediatrics, Jouf University, Sakaka, Saudi Arabia., Al-Qahtani M; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia., Alkuraya FS; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia. Electronic address: falkuraya@kfshrc.edu.sa.
Jazyk: angličtina
Zdroj: European journal of medical genetics [Eur J Med Genet] 2023 Dec; Vol. 66 (12), pp. 104886. Date of Electronic Publication: 2023 Nov 18.
DOI: 10.1016/j.ejmg.2023.104886
Abstrakt: Biallelic pathogenic variants in CLDN10 cause the very rare and distinct multiplex epithelium dysfunction manifested by hypohidrosis and electrolyte imbalance (HELIX) syndrome. HELIX patients often present with heat intolerance and reduced tear secretion. Here, we report on eight new patients (four families) who presented soon after birth with fine scales in the palms and soles and hypohidrosis that was associated with high body temperature. Exome sequencing identified a novel homozygous pathogenic variant in CLDN10 in one family (NM_006984:exon1:c.138G>A:p.W46*) and a previously reported pathogenic founder variant in the other three (NM_006984:exon5:c.653del:P218Lfs*21). The detailed clinical reports of these patients and a review of previously reported patients further delineate the phenotype of this extremely rare disorder.
(Copyright © 2023 Elsevier Masson SAS. All rights reserved.)
Databáze: MEDLINE
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