Article

Novel CLDN10 Variant in an 8-Year-Old Female with HELIX Syndrome: A Case Report

2025-10-17

Abstract excerpt

HELIX syndrome is a rare autosomal recessive disorder characterized by Hypohidrosis, Electrolyte imbalance, Lacrimal gland dysfunction, Ichthyosis, and Xerostomia. We report an 8-year-old girl with long-standing anhidrosis and alacrimation who was found to carry a novel nonsense variant in the CLDN10 gene (c.138G>A; p.Trp46*), resulting in an early termination codon in exon 1. Brain MRI revealed bilateral, symm...

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Literature Corpus work: 22197e01-9a97-5112-bc55-ffdd2ef87130
DOI: 10.20944/preprints202510.1261.v1

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