Multiplex epithelium dysfunction due to CLDN10 mutation: the HELIX syndrome.

doi:10.1038/gim.2017.71

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Article

Multiplex epithelium dysfunction due to CLDN10 mutation: the HELIX syndrome.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Feb 2018

Hadj-Rabia Smail, Brideau Gaelle, Al-Sarraj Yasser, Maroun Rachid C, Figueres Marie-Lucile, Leclerc-Mercier Stéphanie, Olinger Eric, Baron Stéphanie, Chaussain Catherine, Nochy Dominique, Taha Rowaida Z, Knebelmann Bertrand, Joshi Vandana, Curmi Patrick A, Kambouris Marios, Vargas-Poussou Rosa, Bodemer Christine, Devuyst Olivier, Houillier Pascal, El-Shanti Hatem

Abstract excerpt

PurposeWe aimed to identify the genetic cause to a clinical syndrome encompassing hypohidrosis, electrolyte imbalance, lacrimal gland dysfunction, ichthyosis, and xerostomia (HELIX syndrome), and to comprehensively delineate the phenotype.MethodsWe performed homozygosity mapping, whole-genome sequencing, gene sequencing, expression studies, functional tests, protein bioinformatics, and histological...

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Identifiers

PMID: 28771254
DOI: 10.1038/gim.2017.71

Genes

CLDN10

Variants

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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