ArticleEuropean journal of human genetics : EJHG2009
Homozygosity for a null allele of COL3A1 results in recessive Ehlers-Danlos syndrome.
Article in European journal of human genetics : EJHG, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers.
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Who cites it
20 citing papers in PubMed, 47 citations in OpenAlex.
- Review
- Chest Imaging Findings and Tissue Biopsy Experience in a Patient with Type IV Ehlers-Danlos Syndrome: A Case Report.Journal of the Korean Society of Radiology · 2025Article
- Vascular Ehlers-Danlos Syndrome: A Comprehensive Natural History Study in a Dutch National Cohort of 142 Patients.Circulation. Genomic and precision medicine · 2024Article
- Variant-specific effects define the phenotypic spectrum of HNRNPH2-associated neurodevelopmental disorders in males.Human genetics · 2022Article
- Four decades in the making: Collagen III and mechanisms of vascular Ehlers Danlos Syndrome.Matrix biology plus · 2021Review
- Molecular phenotyping and functional assessment of smooth muscle-like cells with pathogenic variants in aneurysm genes ACTA2, MYH11, SMAD3 and FBN1.Human molecular genetics · 2021Article
- Animal Models of Ehlers-Danlos Syndromes: Phenotype, Pathogenesis, and Translational Potential.Frontiers in genetics · 2021Review
- The Ehlers-Danlos syndromes.Nature reviews. Disease primers · 2020Review
- Vascular Ehlers-Danlos Syndrome with a Novel Missense Mutation in COL3A1: A Man in His 50s with Aortic Dissection after Interventional Treatment for Hemothorax as the First Manifestation.Internal medicine (Tokyo, Japan) · 2019Article
- Review
- Frequency of de novo variants and parental mosaicism in vascular Ehlers-Danlos syndrome.Genetics in medicine : official journal of the American College of Medical Genetics · 2019Article
- Vascular Ehlers-Danlos Syndrome in siblings with biallelic COL3A1 sequence variants and marked clinical variability in the extended family.European journal of human genetics : EJHG · 2015Article
- Overrepresentation of the COL3A1 AA genotype in Polish skiers with anterior cruciate ligament injury.Biology of sport · 2015Article
- GPR56 and the developing cerebral cortex: cells, matrix, and neuronal migration.Molecular neurobiology · 2013Review
- Ultrastructural scoring of skin biopsies for diagnosis of vascular Ehlers-Danlos syndrome.Virchows Archiv : an international journal of pathology · 2012Article
- Allele-specific siRNA knockdown as a personalized treatment strategy for vascular Ehlers-Danlos syndrome in human fibroblasts.FASEB journal : official publication of the Federation of American Societies for Experimental Biology · 2012Article
- Loss of Col3a1, the gene for Ehlers-Danlos syndrome type IV, results in neocortical dyslamination.PloS one · 2012Article
- Haploinsufficiency of the murine Col3a1 locus causes aortic dissection: a novel model of the vascular type of Ehlers-Danlos syndrome.Cardiovascular research · 2011Article
- Hemizygous deletion of COL3A1, COL5A2, and MSTN causes a complex phenotype with aortic dissection: a lesson for and from true haploinsufficiency.European journal of human genetics : EJHG · 2010Article
- The haploinsufficient Col3a1 mouse as a model for vascular Ehlers-Danlos syndrome.Veterinary pathology · 2010Article
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Authors and funding
6 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
So far, mutations in the human COL3A1 gene have been associated with the predominantly inherited Ehlers-Danlos syndrome (EDS), vascular type. Genotype-phenotype correlation perspectives collapsed, as haploinsufficiency, which was long suggested to confer a milder or unrecognized phenotype, was reported in four patients with a phenotype similar to that of vascular EDS. Here, we study a case of recessive EDS in a young consanguineous girl of healthy parents. She fulfilled the vascular EDS criteria for laboratory testing. Total sequencing of COL3A1 cDNA identified a homozygous nucleotide duplication (c.479dupT) resulting in a premature termination codon (p.Lys161GlnfsX45). Studies in genomic DNA showed that this mutation was inherited from each parent. The expression analysis (RT-PCR, quantitative-PCR, immunohistochemistry, WB) showed strong mRNA decay and an absence of type III collagen in the proband. The expected COL3A1 haploinsufficiency in her healthy ascendants did not lead to the manifestations of vascular EDS. This case provides evidence of a stochastic effect of COL3A1 haploinsufficiency in humans, which could be explained by the relation between nonsense-mediated mRNA decay efficiency and the resulting dominant-negative effect depending on the position of the mutation and/or modifying factors. It opens up new perspectives for the understanding of COL3A1 genotype-phenotype correlations, which is required while considering targeted therapy.
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