ArticleBrain : a journal of neurology2021
Bi-allelic truncating mutations in VWA1 cause neuromyopathy.
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. Cited by 19 papers.
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Who cites it
19 citing papers in PubMed.
- Whole-Body Muscle MRI in Non-5q Spinal Muscular Atrophy: Patterns, Genotype Prediction, and Diagnostic Implications.Neurology. Genetics · 2026Article
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- Children with suspected hereditary spastic paraplegia clearly benefit from whole exome analysis.Human genomics · 2026Article
- Disease spectrum and long-term prognosis of patients with BAG3-associated neuromuscular diseases in Europe.Brain : a journal of neurology · 2025Article
- A fibroblast-specific gene signature as a therapeutic target for glioblastoma developed based on the characteristics of tumor microenvironment.European journal of medical research · 2025Article
- Extracellular Matrix Remodeling in Motor Neuron Diseases.International journal of molecular sciences · 2025Review
- Transcriptomic Response to Neuromuscular Electrical Stimulation in Muscle, Brain, and Plasma EVs in WT and Klotho-Deficient Mice.International journal of molecular sciences · 2025Article
- A complete and near-perfect rhesus macaque reference genome: lessons from subtelomeric repeats and sequencing bias.bioRxiv : the preprint server for biology · 2025Article
- Bi-allelic KICS2 mutations impair KICSTOR complex-mediated mTORC1 regulation, causing intellectual disability and epilepsy.American journal of human genetics · 2025Article
- Genetics of inherited peripheral neuropathies and the next frontier: looking backwards to progress forwards.Journal of neurology, neurosurgery, and psychiatry · 2024Review
- Proteomic studies in VWA1-related neuromyopathy allowed new pathophysiological insights and the definition of blood biomarkers.Journal of cellular and molecular medicine · 2024Article
- Autosomal recessiveBrain communications · 2024Article
- Heterozygous pathogenic variants involvingJournal of medical genetics · 2023Article
- Early onset hereditary neuronopathies: an update on non-5q motor neuron diseases.Brain : a journal of neurology · 2023Review
- Methylome and Transcriptome-Based Integration Analysis Identified Molecular Signatures Associated With Meningitis Induced byFrontiers in immunology · 2022Article
- Neuromuscular disease: 2022 update.Free neuropathology · 2022Article
- Advancing genomic technologies and clinical awareness accelerates discovery of disease-associated tandem repeat sequences.Genome research · 2022Review
- An ancestral 10-bp repeat expansion in VWA1 causes recessive hereditary motor neuropathy.Brain : a journal of neurology · 2021Article
- MutatedFrontiers in cell and developmental biology · 2021Article
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27 authors.
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No grant is acknowledged in the PubMed record.
Abstract
The von Willebrand Factor A domain containing 1 protein, encoded by VWA1, is an extracellular matrix protein expressed in muscle and peripheral nerve. It interacts with collagen VI and perlecan, two proteins that are affected in hereditary neuromuscular disorders. Lack of VWA1 is known to compromise peripheral nerves in a Vwa1 knock-out mouse model. Exome sequencing led us to identify bi-allelic loss of function variants in VWA1 as the molecular cause underlying a so far genetically undefined neuromuscular disorder. We detected six different truncating variants in 15 affected individuals from six families of German, Arabic, and Roma descent. Disease manifested in childhood or adulthood with proximal and distal muscle weakness predominantly of the lower limbs. Myopathological and neurophysiological findings were indicative of combined neurogenic and myopathic pathology. Early childhood foot deformity was frequent, but no sensory signs were observed. Our findings establish VWA1 as a new disease gene confidently implicated in this autosomal recessive neuromyopathic condition presenting with child-/adult-onset muscle weakness as a key clinical feature.
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