Clinical and molecular features of four families with CLDN10 associated HELIX syndrome

Eur J Med Genet. 2023 Nov 18:104886. doi: 10.1016/j.ejmg.2023.104886. Online ahead of print.ABSTRACTBiallelic 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 common founder of a previously reported pathogenic 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.PMID:37984702 | DOI:10.1016/j.ejmg.2023.104886

Source: European Journal of Medical Genetics - November 20, 2023 Category: Genetics & Stem Cells Authors: Ahmad Qudair Maged Hussein Mohammed Alowain Zuhair Nasser Al-Hassnan Abdullah Alfaifi Abdullah Alfalah Mashael Al-Qahtani Fowzan S Alkuraya Source Type: research