ArticleBrain : a journal of neurology2021
De novo stop-loss variants in CLDN11 cause hypomyelinating leukodystrophy.
Article in Brain : a journal of neurology, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 18 papers, 1 of them a synthesis that pooled it.
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18 citing papers in PubMed, 1 synthesis or guideline pooled it, 28 citations in OpenAlex.
- A Meta-Analysis of the Effects of Early Life Stress on the Prefrontal Cortex Transcriptome Reveals Long-Term Downregulation of Myelin-Related Gene Expression.Brain and behavior · 2025Pooled it
- Claudin-11-Mediated Hypomyelinating Leukodystrophy 22: New Insights Into Pathogenic Mechanisms.Clinical genetics · 2026Article
- Beyond Neurodegeneration: White Matter Vacuolation as a Primary Myelin Defect.International journal of molecular sciences · 2026Review
- Nanofiber-based platform for quantitative analysis of human oligodendrocyte ensheathment with pharmacological perturbations.Stem cell reports · 2026Article
- Claudin proteins as emerging therapeutic targets for solid tumours.Nature reviews. Cancer · 2026Review
- Hesperetin, Acting Through Inhibition of c-Jun Signaling, Mitigates Hypomyelinating Disease-Associated Stop-Loss Claudin-11-Induced Defective Morphogenesis in Oligodendroglial FBD-102b Cells.International journal of molecular sciences · 2026Article
- Article
- Inhibition of neutrophil extracellular traps alleviates blood-brain barrier disruption and cognitive dysfunction via Wnt3/β-catenin/TCF4 signaling in sepsis-associated encephalopathy.Journal of neuroinflammation · 2025Article
- The role of CLDN11 in promotion of granulosa cell proliferation in polycystic ovary syndrome via activation of the PI3K-AKT signalling pathway.Scientific reports · 2025Article
- Claudin-11, a hypomyelinating leukodystrophy 22 (HLD22)-responsible protein, uniquely interacts with shroom-2 to change cell phenotypes.BBA advances · 2025Article
- Claudin 1, 4, 6 and 18 isoform 2 as targets for the treatment of cancer (Review).International journal of molecular medicine · 2024Review
- Overview of Neuro-Ophthalmic Findings in Leukodystrophies.Journal of clinical medicine · 2024Article
- A loss of function mutation in CLDN25 causing Pelizaeus-Merzbacher-like leukodystrophy.Human molecular genetics · 2024Article
- Cellular Organelle-Related Transcriptomic Profile Abnormalities in Neuronopathic Types of Mucopolysaccharidosis: A Comparison with Other Neurodegenerative Diseases.Current issues in molecular biology · 2024Article
- Molecular Pathogenic Mechanisms of Hypomyelinating Leukodystrophies (HLDs).Neurology international · 2023Review
- Claudin-11 in health and disease: implications for myelin disorders, hearing, and fertility.Frontiers in cellular neuroscience · 2023Review
- Recurrent de novo mutations in CLDN5 induce an anion-selective blood-brain barrier and alternating hemiplegia.Brain : a journal of neurology · 2022Article
- Suleiman-El-Hattab syndrome: a histone modification disorder caused by TASP1 deficiency.Human molecular genetics · 2022Article
Corrections and comments
- Erratum issued
Authors and funding
20 authors at 8 institutions in 4 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Claudin-11, a tight junction protein, is indispensable in the formation of the radial component of myelin. Here, we report de novo stop-loss variants in the gene encoding claudin-11, CLDN11, in three unrelated individuals presenting with an early-onset spastic movement disorder, expressive speech disorder and eye abnormalities including hypermetropia. Brain MRI showed a myelin deficit with a discrepancy between T1-weighted and T2-weighted images and some progress in myelination especially involving the central and peripheral white matter. Exome sequencing identified heterozygous stop-loss variants c.622T>C, p.(*208Glnext*39) in two individuals and c.622T>G, p.(*208Gluext*39) in one individual, all occurring de novo. At the RNA level, the variant c.622T>C did not lead to a loss of expression in fibroblasts, indicating this transcript is not subject to nonsense-mediated decay and most likely translated into an extended protein. Extended claudin-11 is predicted to form an alpha helix not incorporated into the cytoplasmic membrane, possibly perturbing its interaction with intracellular proteins. Our observations suggest that stop-loss variants in CLDN11 expand the genetically heterogeneous spectrum of hypomyelinating leukodystrophies.
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