ArticleAmerican journal of human genetics2002
Mutations in COL6A3 cause severe and mild phenotypes of Ullrich congenital muscular dystrophy.
Article in American journal of human genetics, 2002. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 55 papers.
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55 citing papers in PubMed, 167 citations in OpenAlex.
- Molecular etiology of arthrogryposis in multiple families of mostly Turkish origin.The Journal of clinical investigation · 2016Trial
- Multi-trait and Gene-Based Analyses Identify Genetic Variants Associated with Spontaneous Coronary Artery Dissection.medRxiv : the preprint server for health sciences · 2026Article
- Uncovering the genetic architecture of ME/CFS: a precision approach reveals impact of rare monogenic variation.Journal of translational medicine · 2025Article
- Myoblast-derived ADAMTS-like 2 promotes skeletal muscle regeneration after injury.NPJ Regenerative medicine · 2024Article
- Plasma acellular transcriptome contains Parkinson's disease signatures that can inform clinical diagnosis.medRxiv : the preprint server for health sciences · 2024Article
- Optimized allele-specific silencing of the dominant-negativeMolecular therapy. Nucleic acids · 2024Article
- New Clinical and Immunofluoresence Data of Collagen VI-Related Myopathy: A Single Center Cohort of 69 Patients.International journal of molecular sciences · 2023Article
- The UCMD-CausingHuman mutation · 2023Article
- Collagen VI Regulates Motor Circuit Plasticity and Motor Performance by Cannabinoid Modulation.The Journal of neuroscience : the official journal of the Society for Neuroscience · 2022Article
- 3D in vitro Models of Pathological Skeletal Muscle: Which Cells and Scaffolds to Elect?Frontiers in bioengineering and biotechnology · 2022Review
- Transcriptome analysis of collagen VI-related muscular dystrophy muscle biopsies.Annals of clinical and translational neurology · 2021Article
- New insights into hallux valgus by whole exome sequencing study.Experimental biology and medicine (Maywood, N.J.) · 2021Article
- The critical role of collagen VI in lung development and chronic lung disease.Matrix biology plus · 2021Review
- Study of the collagen type VI alpha 3 (COL6A3) gene in Parkinson's disease.BMC neurology · 2021Article
- Collagen VI Muscle Disorders: Mutation Types, Pathogenic Mechanisms and Approaches to Therapy.Advances in experimental medicine and biology · 2021Article
- Structure of a collagen VI α3 chain VWA domain array: adaptability and functional implications of myopathy causing mutations.The Journal of biological chemistry · 2020Article
- Exon-Skipping Oligonucleotides Restore Functional Collagen VI by Correcting a Common COL6A1 Mutation in Ullrich CMD.Molecular therapy. Nucleic acids · 2020Article
- The Genetic Architecture of the Chickens Dropping Moisture by Genetic Parameter Estimation and Genome-Wide Association.Frontiers in genetics · 2020Article
- The Biological Role of the Collagen Alpha-3 (VI) Chain and Its Cleaved C5 Domain Fragment Endotrophin in Cancer.OncoTargets and therapy · 2020Review
- Cross-Talk Between Extracellular Matrix and Skeletal Muscle: Implications for Myopathies.Frontiers in pharmacology · 2020Review
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Authors and funding
10 authors at 5 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Ullrich congenital muscular dystrophy (UCMD) is an autosomal recessive disorder characterized by generalized muscular weakness, contractures of multiple joints, and distal hyperextensibility. Homozygous and compound heterozygous mutations of COL6A2 on chromosome 21q22 have recently been shown to cause UCMD. We performed a genomewide screening with microsatellite markers in a consanguineous family with three sibs affected with UCMD. Linkage of the disease to chromosome 2q37 was found in this family and in two others. We analyzed COL6A3, which encodes the alpha3 chain of collagen VI, and identified one homozygous mutation per family. In family I, the three sibs carried an A-->G transition in the splice-donor site of intron 29 (6930+5A-->G), leading to the skipping of exon 29, a partial reduction of collagen VI in muscle biopsy, and an intermediate phenotype. In family II, the patient had an unusual mild phenotype, despite a nonsense mutation, R465X, in exon 5. Analysis of the patient's COL6A3 transcripts showed the presence of various mRNA species-one of which lacked several exons, including the exon containing the nonsense mutation. The deleted splice variant encodes collagen molecules that have a shorter N-terminal domain but that may assemble with other chains and retain a functional role. This could explain the mild phenotype of the patient who was still ambulant at age 18 years and who showed an unusual combination of hyperlaxity and finger contractures. In family III, the patient had a nonsense mutation, R2342X, causing absence of collagen VI in muscle and fibroblasts, and a severe phenotype, as has been described in patients with UCMD. Mutations in COL6A3 are described in UCMD for the first time and illustrate the wide spectrum of phenotypes which can be caused by collagen VI deficiency.
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