ArticleGenetics in medicine : official journal of the American College of Medical Genetics2020
Loss of TNR causes a nonprogressive neurodevelopmental disorder with spasticity and transient opisthotonus.
Article in Genetics in medicine : official journal of the American College of Medical Genetics, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 21 papers.
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Who cites it
21 citing papers in PubMed, 40 citations in OpenAlex.
- Data-Driven Insights into Hyperkinetic Disorders in Neurodevelopmental Syndromes and Epileptic Encephalopathies.Movement disorders clinical practice · 2026Review
- Biallelic variants in TNR cause neurodevelopmental disorders with variable expressivity.Journal of human genetics · 2026Article
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- Genome Selection and Genome-Wide Association Analyses for Litter Size Traits in Large White Pigs.Animals : an open access journal from MDPI · 2025Article
- Generation of decellularized human brain tissue for investigating cell-matrix interactions: a proof-of-concept study.Frontiers in bioengineering and biotechnology · 2025Article
- Bioactive hydrogel synergizes neuroprotection, macrophage polarization, and angiogenesis to improve repair of traumatic brain injury.Materials today. Bio · 2024Article
- Mechanisms underlying the cell-matrixed nerve grafts repairing peripheral nerve defects.Bioactive materials · 2024Article
- Canine paroxysmal dyskinesia-a review.Frontiers in veterinary science · 2024Review
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- Promoting Immortalized Adipose-Derived Stem Cell Transdifferentiation and Proliferation into Neuronal-Like Cells through Consecutive 525 nm and 825 nm Photobiomodulation.Stem cells international · 2022Article
- SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females.American journal of human genetics · 2021Article
- Differential intolerance to loss of function and missense mutations in genes that encode human matricellular proteins.Journal of cell communication and signaling · 2021Article
- Evaluating the genetic effects of sex hormone traits on the development of mental traits: a polygenic score analysis and gene-environment-wide interaction study in UK Biobank cohort.Molecular brain · 2021Article
- Latent TGF-β Activation Is a Hallmark of the Tenascin Family.Frontiers in immunology · 2021Article
- Expanding the clinical and genetic spectrum of CAD deficiency: an epileptic encephalopathy treatable with uridine supplementation.Genetics in medicine : official journal of the American College of Medical Genetics · 2020Article
Corrections and comments
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Authors and funding
32 authors at 17 institutions in 10 countries.
Funding
Abstract
purposeTNR, encoding Tenascin-R, is an extracellular matrix glycoprotein involved in neurite outgrowth and neural cell adhesion, proliferation and migration, axonal guidance, myelination, and synaptic plasticity. Tenascin-R is exclusively expressed in the central nervous system with highest expression after birth. The protein is crucial in the formation of perineuronal nets that ensheath interneurons. However, the role of Tenascin-R in human pathology is largely unknown. We aimed to establish TNR as a human disease gene and unravel the associated clinical spectrum.
methodsExome sequencing and an online matchmaking tool were used to identify patients with biallelic variants in TNR.
resultsWe identified 13 individuals from 8 unrelated families with biallelic variants in TNR sharing a phenotype consisting of spastic para- or tetraparesis, axial muscular hypotonia, developmental delay, and transient opisthotonus. Four homozygous loss-of-function and four different missense variants were identified.
conclusionWe establish TNR as a disease gene for an autosomal recessive nonprogressive neurodevelopmental disorder with spasticity and transient opisthotonus and highlight the role of central nervous system extracellular matrix proteins in the pathogenicity of spastic disorders.
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