ArticleAmerican journal of human genetics2008
Mutations in contactin-1, a neural adhesion and neuromuscular junction protein, cause a familial form of lethal congenital myopathy.
Article in American journal of human genetics, 2008. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 46 papers.
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46 citing papers in PubMed, 81 citations in OpenAlex.
- Role of CNTN6 in neurodevelopment and neuropathology.Frontiers in neuroscience · 2026Review
- The effect of long-term adherence to physical activity recommendations in midlife on plasma proteins associated with frailty in the Atherosclerosis Risk in Communities (ARIC) study.European journal of epidemiology · 2026Article
- Candidate gene search for milk production and composition, milk coagulation properties, and milk protein profile in dairy sheep from a New Zealand flock.Animal biotechnology · 2025Article
- A multi-omic atlas of human autonomic and sensory ganglia implicates cell types in peripheral neuropathies.bioRxiv : the preprint server for biology · 2025Article
- Mid-life plasma proteins associated with late-life prefrailty and frailty: a proteomic analysis.GeroScience · 2024Article
- Congenital myopathies: pathophysiological mechanisms and promising therapies.Journal of translational medicine · 2024Review
- The Co-pathogenic Target Gene CNTN1 Involved in Coronary Artery Disease and Pulmonary Arterial Hypertension Has Potential for Diagnosis of Coronary Artery Disease.Anatolian journal of cardiology · 2024Article
- AAV-based gene therapy ameliorated CNS-specific GPI defect in mouse models.Molecular therapy. Methods & clinical development · 2024Article
- CNTN1 Aggravates Neuroinflammation and Triggers Cognitive Deficits in Male Mice by Boosting Crosstalk between Microglia and Astrocytes.Aging and disease · 2023Article
- Genetic Mapping of Behavioral Traits Using the Collaborative Cross Resource.International journal of molecular sciences · 2022Article
- Article
- Upregulated CNTN1 is associated with lymph node metastasis and poor prognosis of colorectal cancer.Cancer biomarkers : section A of Disease markers · 2021Article
- Genetic diagnosis and clinical evaluation of severe fetal akinesia syndrome.Prenatal diagnosis · 2020Article
- Molecular and Cellular Substrates for the Friedreich Ataxia. Significance of Contactin Expression and of Antioxidant Administration.Molecules (Basel, Switzerland) · 2020Article
- Contactin 1: An Important and Emerging Oncogenic Protein Promoting Cancer Progression and Metastasis.Genes · 2020Review
- BraInMap Elucidates the Macromolecular Connectivity Landscape of Mammalian Brain.Cell systems · 2020Article
- Article
- A Panel of Exosome-Derived miRNAs of Cerebrospinal Fluid for the Diagnosis of Moyamoya Disease.Frontiers in neuroscience · 2020Article
- Contactin-1 Is Required for Peripheral Innervation and Immune Homeostasis Within the Intestinal Mucosa.Frontiers in immunology · 2020Article
- Contactins in the central nervous system: role in health and disease.Neural regeneration research · 2019Review
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12 authors at 7 institutions in 2 countries.
Funding
Abstract
We have previously reported a group of patients with congenital onset weakness associated with a deficiency of members of the syntrophin-alpha-dystrobrevin subcomplex and have demonstrated that loss of syntrophin and dystrobrevin from the sarcolemma of skeletal muscle can also be associated with denervation. Here, we have further studied four individuals from a consanguineous Egyptian family with a lethal congenital myopathy inherited in an autosomal-recessive fashion and characterized by a secondary loss of beta2-syntrophin and alpha-dystrobrevin from the muscle sarcolemma, central nervous system involvement, and fetal akinesia. We performed homozygosity mapping and candidate gene analysis and identified a mutation that segregates with disease within CNTN1, the gene encoding for the neural immunoglobulin family adhesion molecule, contactin-1. Contactin-1 transcripts were markedly decreased on gene-expression arrays of muscle from affected family members compared to controls. We demonstrate that contactin-1 is expressed at the neuromuscular junction (NMJ) in mice and man in addition to the previously documented expression in the central and peripheral nervous system. In patients with secondary dystroglycanopathies, we show that contactin-1 is abnormally localized to the sarcolemma instead of exclusively at the NMJ. The cntn1 null mouse presents with ataxia, progressive muscle weakness, and postnatal lethality, similar to the affected members in this family. We propose that loss of contactin-1 from the NMJ impairs communication or adhesion between nerve and muscle resulting in the severe myopathic phenotype. This disorder is part of the continuum in the clinical spectrum of congenital myopathies and congenital myasthenic syndromes.
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