ArticleEuropean journal of human genetics : EJHG2010
Hemizygous deletion of COL3A1, COL5A2, and MSTN causes a complex phenotype with aortic dissection: a lesson for and from true haploinsufficiency.
Article in European journal of human genetics : EJHG, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers, 1 of them a synthesis that pooled it.
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18 citing papers in PubMed, 1 synthesis or guideline pooled it, 39 citations in OpenAlex.
- Meta-assembly of genomic associations to identify cattle fat depot candidate genes and pleiotropic effects.BMC genomics · 2024Pooled it
- Vascular Ehlers Danlos Syndrome and Chromosome 2q32 Microdeletion Syndrome.European journal of human genetics : EJHG · 2025Review
- RNF185 Control of COL3A1 Expression Limits Prostate Cancer Migration and Metastatic Potential.Molecular cancer research : MCR · 2024Article
- Calcitriol attenuates liver fibrosis through hepatitis C virus nonstructural protein 3-transactivated protein 1-mediated TGF β1/Smad3 and NF-κB signaling pathways.World journal of gastroenterology · 2023Article
- Tracking an Elusive Killer: State of the Art of Molecular-Genetic Knowledge and Laboratory Role in Diagnosis and Risk Stratification of Thoracic Aortic Aneurysm and Dissection.Diagnostics (Basel, Switzerland) · 2022Review
- Neuregulin (NRG-1β) Is Pro-Myogenic and Anti-Cachectic in Respiratory Muscles of Post-Myocardial Infarcted Swine.Biology · 2022Article
- Twin pregnancy with untyped Ehlers-Danlos syndrome requiring prompt genetic testing: A case report.Case reports in women's health · 2022Article
- Prognostic Impact of the Angiogenic GeneFrontiers in oncology · 2022Article
- Optimising the mutation screening strategy in Marfan syndrome and identifying genotypes with more severe aortic involvement.Orphanet journal of rare diseases · 2020Article
- Oxidant/Antioxidant Profile in the Thoracic Aneurysm of Patients with the Loeys-Dietz Syndrome.Oxidative medicine and cellular longevity · 2020Article
- Molecular cytogenetic identification of small supernumerary marker chromosomes using chromosome microarray analysis.Molecular cytogenetics · 2019Article
- Identification of Novel Clinically Relevant Variants in 70 Southern Chinese patients with Thoracic Aortic Aneurysm and Dissection by Next-generation Sequencing.Scientific reports · 2017Article
- ExperimentalAmerican journal of translational research · 2016Review
- New insights into the performance of human whole-exome capture platforms.Nucleic acids research · 2015Article
- Analysis of a gene co-expression network establishes robust association between Col5a2 and ischemic heart disease.BMC medical genomics · 2013Article
- Article
- Copy number variation in patients with cervical artery dissection.European journal of human genetics : EJHG · 2012Article
- Haploinsufficiency of the murine Col3a1 locus causes aortic dissection: a novel model of the vascular type of Ehlers-Danlos syndrome.Cardiovascular research · 2011Article
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Authors and funding
16 authors at 5 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Aortic dilatation/dissection (AD) can occur spontaneously or in association with genetic syndromes, such as Marfan syndrome (MFS; caused by FBN1 mutations), MFS type 2 and Loeys-Dietz syndrome (associated with TGFBR1/TGFBR2 mutations), and Ehlers-Danlos syndrome (EDS) vascular type (caused by COL3A1 mutations). Although mutations in FBN1 and TGFBR1/TGFBR2 account for the majority of AD cases referred to us for molecular genetic testing, we have obtained negative results for these genes in a large cohort of AD patients, suggesting the involvement of additional genes or acquired factors. In this study we assessed the effect of COL3A1 deletions/duplications in this cohort. Multiplex ligation-dependent probe amplification (MLPA) analysis of 100 unrelated patients identified one hemizygous deletion of the entire COL3A1 gene. Subsequent microarray analyses and sequencing of breakpoints revealed the deletion size of 3,408,306 bp at 2q32.1q32.3. This deletion affects not only COL3A1 but also 21 other known genes (GULP1, DIRC1, COL5A2, WDR75, SLC40A1, ASNSD1, ANKAR, OSGEPL1, ORMDL1, LOC100129592, PMS1, MSTN, C2orf88, HIBCH, INPP1, MFSD6, TMEM194B, NAB1, GLS, STAT1, and STAT4), mutations in three of which (COL5A2, SLC40A1, and MSTN) have also been associated with an autosomal dominant disorder (EDS classical type, hemochromatosis type 4, and muscle hypertrophy). Physical and laboratory examinations revealed that true haploinsufficiency of COL3A1, COL5A2, and MSTN, but not that of SLC40A1, leads to a clinical phenotype. Our data not only emphasize the impact/role of COL3A1 in AD patients but also extend the molecular etiology of several disorders by providing hitherto unreported evidence for true haploinsufficiency of the underlying gene.
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