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Article

A novel claudin-10 mutation with a unique mechanism in two unrelated families with HELIX syndrome.

Kidney international - 1 Aug 2021

Alzahrani Ali S, Hussein Maged, Alswailem Meshael, Mouna Ahmad, Albalawi Lina, Moria Yosra, Jabbar Mai Abdel, Shi Yufei, Günzel Dorothee, Dasouki Majed

Abstract excerpt

HELIX syndrome, characterized by hypohidrosis, electrolyte imbalance, lacrimal gland dysfunction, ichthyosis, and xerostomia due to claudin-10 (CLDN10) mutations, was recognized in 2017. Here we describe two unrelated Saudi families with this syndrome due to a novel CLDN10 mutation with a unique mechanism of CLDN10 inactivation. The two consanguineous families include 12 affected individuals (three siblings in...

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Identifiers

PMID: 33675844
DOI: 10.1016/j.kint.2021.02.023

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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