Qudair Ahmad, Hussein Maged, Alowain Mohammed, Al-Hassnan Zuhair Nasser, Alfaifi Abdullah, Alfalah Abdullah, Al-Qahtani Mashael, Alkuraya Fowzan S
Department of Medical Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
Department of Medicine, INOVA Fairfax Hospital, 3300 Gallows Rd., Falls Church, VA, 22042, United States.
Eur J Med Genet. 2023 Dec;66(12):104886. doi: 10.1016/j.ejmg.2023.104886. Epub 2023 Nov 18.
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.
CLDN10基因的双等位基因致病变异会导致一种非常罕见且独特的多系统上皮功能障碍，表现为少汗症和电解质失衡（HELIX）综合征。HELIX患者常出现不耐热和泪液分泌减少的症状。在此，我们报告了8例新患者（4个家庭），他们出生后不久即出现手掌和脚底有细小鳞屑以及与体温升高相关的少汗症。外显子组测序在一个家庭中鉴定出CLDN10基因的一种新的纯合致病变异（NM_006984:exon1:c.138G>A:p.W46*），在另外三个家庭中鉴定出一种先前报道的致病始祖变异（NM_006984:exon5:c.653del:P218Lfs*21）。这些患者的详细临床报告以及对先前报道患者的回顾进一步明确了这种极其罕见疾病的表型。
