ArticleHuman molecular genetics2014
Recessive and dominant mutations in COL12A1 cause a novel EDS/myopathy overlap syndrome in humans and mice.
Article in Human molecular genetics, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 67 papers, 3 of them syntheses that pooled it.
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67 citing papers in PubMed, 3 syntheses or guidelines pooled it, 137 citations in OpenAlex.
- A multi-ethnic genome-wide association study implicates collagen matrix integrity and cell differentiation pathways in keratoconus.Communications biology · 2021Pooled it
- Vascular phenotypes in nonvascular subtypes of the Ehlers-Danlos syndrome: a systematic review.Genetics in medicine : official journal of the American College of Medical Genetics · 2018Pooled it
- Diagnostic approach to the congenital muscular dystrophies.Neuromuscular disorders : NMD · 2014Guideline
- Chronological patterns of pathogenic variant distributions in muscular dystrophy genes.Neuromuscular disorders : NMD · 2026Article
- Haplotype GWAS in Swedish warmblood horses for conformation and jumping traits.Journal of animal science · 2026Article
- Molecular exaptation by the integrin αI domain.Science advances · 2025Article
- Myopathic Ehlers-Danlos Syndrome (mEDS) Related toInternational journal of molecular sciences · 2025Review
- Proteomic Study Between Interstitial Channels Along Meridians and Adjacent Areas in Mini-Pigs.Biomolecules · 2025Article
- Novel variant of COL12A1 gene causing neonatal hypotonia and respiratory failure.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2025Article
- Collagen type VI regulates TGF-β bioavailability in skeletal muscle in mice.The Journal of clinical investigation · 2025Article
- Clinical characterization of Collagen XII-related disease caused by biallelic COL12A1 variants.Annals of clinical and translational neurology · 2025Article
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- Durable Muscle Extracellular Matrix Engineered with Adhesive Phenolic Moieties for Effective Skeletal Muscle Regeneration in Muscle Atrophy.Advanced healthcare materials · 2024Article
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- Exome sequencing of 1190 non-syndromic clubfoot cases revealsJournal of medical genetics · 2024Article
- Clinical-Genomic Analysis of 1261 Patients with Ehlers-Danlos Syndrome Outlines an Articulo-Autonomic Gene Network (Entome).Current issues in molecular biology · 2024Article
- Spatial transcriptomics reveals alterations in perivascular macrophage lipid metabolism in the onset of Wooden Breast myopathy in broiler chickens.Scientific reports · 2024Article
- The shared molecular mechanism of spinal cord injury and sarcopenia: a comprehensive genomics analysis.Frontiers in neurology · 2024Article
- COL3A1, COL5A1 and COL6A2 serve as potential molecular biomarkers for osteoarthritis based on weighted gene co‑expression network analysis bioinformatics analysis.Experimental and therapeutic medicine · 2023Article
- Tissue anisotropy and collagenomics in porcine penile tunica albuginea: Implications for penile structure-function relationships and tissue engineering.Acta biomaterialia · 2023Article
7 more citing papers are in PubMed but not listed here.
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Authors and funding
19 authors at 10 institutions in 7 countries.
Funding
Abstract
Collagen VI-related myopathies are disorders of connective tissue presenting with an overlap phenotype combining clinical involvement from the muscle and from the connective tissue. Not all patients displaying related overlap phenotypes between muscle and connective tissue have mutations in collagen VI. Here, we report a homozygous recessive loss of function mutation and a de novo dominant mutation in collagen XII (COL12A1) as underlying a novel overlap syndrome involving muscle and connective tissue. Two siblings homozygous for a loss of function mutation showed widespread joint hyperlaxity combined with weakness precluding independent ambulation, while the patient with the de novo missense mutation was more mildly affected, showing improvement including the acquisition of walking. A mouse model with inactivation of the Col12a1 gene showed decreased grip strength, a delay in fiber-type transition and a deficiency in passive force generation while the muscle seems more resistant to eccentric contraction induced force drop, indicating a role for a matrix-based passive force-transducing elastic element in the generation of the weakness. This new muscle connective tissue overlap syndrome expands on the emerging importance of the muscle extracellular matrix in the pathogenesis of muscle disease.
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