Abstract：
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.
摘要：
CLDN10中的双等位基因致病变体引起非常罕见和独特的多发性上皮功能障碍，表现为汗症和电解质失衡（HELIX）综合征。HELIX患者常表现为热不耐受和泪液分泌减少。这里,我们报道了8例新患者（4个家庭），他们在出生后不久出现手掌和脚底的细鳞片以及与高体温相关的多汗症。外显子组测序在一个家族中的CLDN10中鉴定了一种新的纯合致病性变体（NM_006984：外显子1：c.138G>A：p。W46*）和其他三个先前报道的致病性变体的共同创始人（NM_006984：exon5：c.653del：P218Lfs*21）。这些患者的详细临床报告和对先前报道的患者的回顾进一步描述了这种极为罕见的疾病的表型。
