ArticleGenetics in medicine : official journal of the American College of Medical Genetics2018
Multiplex epithelium dysfunction due to CLDN10 mutation: the HELIX syndrome.
Article in Genetics in medicine : official journal of the American College of Medical Genetics, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 53 papers, 1 of them a synthesis that pooled it.
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Who cites it
53 citing papers in PubMed, 1 synthesis or guideline pooled it, 100 citations in OpenAlex.
- Integrative genome-wide analyses identify novel loci associated with kidney stones and provide insights into its genetic architecture.Nature communications · 2023Pooled it
- Novel associations of Claudin gene variants with kidney stone disease.Clinical kidney journal · 2026Article
- Tight junction structure, assembly and (dys)function.Nature reviews. Molecular cell biology · 2026Review
- Claudin proteins as emerging therapeutic targets for solid tumours.Nature reviews. Cancer · 2026Review
- The Absence of Claudin-10 in the Enamel Organ Alters Its Integrity.Journal of dental research · 2026Article
- Histochemical study of cingulin and CD34 in the skin of a stray Dog.Open veterinary journal · 2026Article
- The epithelial barrier theory proposes a comprehensive explanation for the origins of allergic and other chronic noncommunicable diseases.FEBS letters · 2025Review
- Autoimmune Tubulopathies.Journal of the American Society of Nephrology : JASN · 2025Review
- Expression of Epithelial-Mesenchymal Transition-Related Protein Claudin-10 in Oral Lichen Planus.Cureus · 2025Article
- A Comprehensive Review of Electrolyte Imbalances and Their Applied Aspects in Dermatology.Cureus · 2025Review
- Type 2 immunity in allergic diseases.Cellular & molecular immunology · 2025Review
- Identification of Novel Gene Signature Predicting Lymph Node Metastasis in Papillary Thyroid Cancer via Bioinformatics Analysis and in vitro Validation.International journal of general medicine · 2025Article
- Barrier genes are associated with preterm birth.Frontiers in medicine · 2025Article
- Paracellular Transport and Renal Tubule Calcium Handling: Emerging Roles in Kidney Stone Disease.Journal of the American Society of Nephrology : JASN · 2024Review
- Role of fatty acid metabolism-related genes in periodontitis based on machine learning and bioinformatics analysis.Hua xi kou qiang yi xue za zhi = Huaxi kouqiang yixue zazhi = West China journal of stomatology · 2024Article
- HELIX Syndrome, a Claudinopathy with Relevant Dermatological Manifestations: Report of Two New Cases.Genes · 2024Article
- Altered Sweat Composition Due to Changes in Tight Junction Expression of Sweat Glands in Cholinergic Urticaria Patients.International journal of molecular sciences · 2024Article
- Claudin-10 Expression and the Gene Expression Pattern of Thick Ascending Limb Cells.International journal of molecular sciences · 2024Article
- Normal and Sjogren's syndrome models of the murine lacrimal gland studied at single-cell resolution.Proceedings of the National Academy of Sciences of the United States of America · 2023Article
- MEMO1 Is Required for Ameloblast Maturation and Functional Enamel Formation.Journal of dental research · 2023Article
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Authors and funding
20 authors at 8 institutions in 6 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
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 characterization in two unrelated families with HELIX syndrome.ResultsWe identified biallelic missense mutations (c.386C>T, p.S131L and c.2T>C, p.M1T) in CLDN10B in six patients from two unrelated families. CLDN10B encodes Claudin-10b, an integral tight junction (TJ) membrane-spanning protein expressed in the kidney, skin, and salivary glands. All patients had hypohidrosis, renal loss of NaCl with secondary hyperaldosteronism and hypokalemia, as well as hypolacrymia, ichthyosis, xerostomia, and severe enamel wear. Functional testing revealed that patients had a decreased NaCl absorption in the thick ascending limb of the loop of Henle and a severely decreased secretion of saliva. Both mutations resulted in reduced or absent Claudin-10 at the plasma membrane of epithelial cells.ConclusionCLDN10 mutations cause a dysfunction in TJs in several tissues and, subsequently, abnormalities in renal ion transport, ectodermal gland homeostasis, and epidermal integrity.
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