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The type of variants at the COL3A1 gene associates with the phenotype and severity of vascular Ehlers-Danlos syndrome
Open accessAbstract
Vascular Ehlers-Danlos syndrome (vEDS) is a rare and severe autosomal dominant disorder caused by variants at the COL3A1 gene. Clinical characteristics and course of disease of 215 molecularly proven patients (146 index cases and 69 relatives) were analysed. We found 126 distincts variants that were divided into five groups: (1) Glycine substitutions (n=71), (2) splice-site and in-frame insertions-deletions (n=36), (3) variants leading to haplo-insufficiency (n=7), (4) non-glycine missense variants within the triple helix (n=4 variants), and (5) non-glycine missense variants or in-frame insertions-deletions, in the N- or C-terminal part of the protein (n=8). Overall, our cohort confirmed the severity of the disease with a median age at first complication of 29 years (IQR 22-39), the most frequent being arterial (48%) and digestive (24%) ruptures. Groups 2 and 1 were significantly more severe than groups 3-5, with extreme median ages at first major complication of 23-47 years. Patients of groups 3-5 had a less typical phenotype and remarkably absence of digestive events. The distribution of glycine-replacing amino acids was strongly biased towards more destabilizing residues of the collagen assembly. Thus the natural course of vEDS and the clinical phenotype of patients are influenced by the type of COL3A1 variant. This study also confirms that patients with variants located in the C- and N-termini or leading to haplo-insufficiency have milder course of the disease and less prevalent diagnostic criteria. These findings may help refine diagnostic strategy, genetic counselling and clinical care.
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In the citing paper
“The majority of disease-causing variants in COL3A1 are glycine substitutions and in-frame splice mutations in the triple helix domain”
In the citing paper
“through a dominant negative effect are associated with the severe clinical spectrum potentially lethal of vEDS, characterized by fragility of soft connective tissues with arterial and organ ruptures.”
In the citing paper
“the nature of the specific COL3A1 mutation influences life expectancy.”
In the citing paper
“Splice site mutations that lead to exon skipping have the lowest median survival.”
In the citing paper
“Heterozygosity for COL3A1 null alleles typically produces a milder clinical phenotype with a significant delayed onset of complications [4, 9–12].”
In the citing paper
“Substitutions of bulky residues (Arg, Asp, Glu, Val) for glycine residues in the triple helical domain are usually less severe than splice site mutations, but more consequential than substitutions by smaller residues (Ala, Ser, Cys).”
In the citing paper
“This type of mutations produces a dominant negative effect on the protein, thereby inhibiting extracellular accumulation of mature COLLIII.”
In the citing paper
“COL3A1 missense mutations altering the glycine codons together with in-frame splice mutations in the triple helical domain account for the majority of disease-causing variants and lead to misfolding of COLLIII in the endoplasmic reticulum (ER) and retention of seven eighths of misfolded procollagen trimers in the cell with consequent enlargement of ER vesicles [8–10].”
In the citing paper
“Besides, the present patients exhibited a full-blown expression of the disease with several major arterial events, in line with the limited genotype-phenotype correlation that associates this type of structural mutations with a more severe clinical phenotype [4,9–12].”
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Cites
Molecular Mechanisms of Stress-Responsive Changes in Collagen and Elastin Networks in Skin
Aziz, J., Shezali, H., Radzi, Z., Yahya, N. A., Abu Kassim, N. H., Czernuszka, J., & Rahman, M. T. (2016) · Skin Pharmacology and Physiology · doi:10.1159/000447017 · Cited by 7,323
Clinical and genetic features of Ehlers-Danlos syndrome type IV, the vascular type
Pepin, M., Schwarze, U., Superti-Furga, A., & Byers, P. H. (2000) · New England Journal of Medicine · doi:10.1056/nejm200003093421001 · Cited by 1,344
Structurally Distinct Collagen Types
BORNSTEIN, P. K., & Sage, H. (1980) · Annual Review of Biochemistry · doi:10.1146/annurev.bi.49.070180.004521 · Cited by 1,055
Heritable Diseases of Collagen
Prockop, D. J., & Kivirikko, K. I. (1984) · New England Journal of Medicine · doi:10.1056/nejm198408093110606 · Cited by 566
Pepin, M. G., Schwarze, U., Rice, K. M., Liu, M., Leistritz, & Byers, P. H. (2014) · Genetics in Medicine · doi:10.1038/gim.2014.72 · Cited by 313
The Human Collagen Mutation Database 1998
Dalgleish, R. (1998) · Nucleic Acids Research · doi:10.1093/nar/26.1.253 · Cited by 219
Beck, K., Chan, V. C., Shenoy, N., Kirkpatrick, A., Ramshaw, J. A. M., & Brodsky, B. (2000) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.070050097 · Cited by 190
Schwarze, U., Schievink, W. I., Petty, E., Jaff, M. R., Babovic-Vuksanovic, D., Cherry, K. J., Pepin, M., & Byers, P. H. (2001) · The American Journal of Human Genetics · doi:10.1086/324123 · Cited by 184
Leistritz, D. F., Pepin, M. G., Schwarze, U., & Byers, P. H. (2011) · Genetics in Medicine · doi:10.1097/gim.0b013e3182180c89 · Cited by 141
Shalhub, S., Black, J. H., Cecchi, A. C., Zhi, X., Griswold, B. F., Safi, H. J., Milewicz, D. M., & McDonnell, N. B. (2014) · Journal of Vascular Surgery · doi:10.1016/j.jvs.2014.01.070 · Cited by 132
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Byers, P. H., Belmont, J., Black, J., De Backer, J., Frank, M., Jeunemaitre, X., Johnson, D., Pepin, M., Robert, L., Sanders, L., et al. (2017) · American Journal of Medical Genetics Part C: Seminars in Medical Genetics · doi:10.1002/ajmg.c.31553 · Cited by 381
Self-citationMalfait, F., Castori, M., Francomano, C. A., Giunta, C., Kosho, T., & Byers, P. H. (2020) · Nature Reviews Disease Primers · doi:10.1038/s41572-020-0194-9 · Cited by 346
Koblan, L. W., Arbab, M., Shen, M. W., Hussmann, J. A., Anzalone, A. V., Doman, J. L., Newby, G. A., Yang, D., Mok, B. Y., Replogle, J. M., et al. (2021) · Nature Biotechnology · doi:10.1038/s41587-021-00938-z · Cited by 214
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Brownstein, A. J., Kostiuk, V., Ziganshin, B. A., Zafar, M. A., Kuivaniemi, H., Body, S. C., Bale, A. E., & Elefteriades, J. A. (2018) · Aorta · doi:10.1055/s-0038-1639612 · Cited by 179
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Frank, M., Adham, S., Seigle, S., Legrand, A., Mirault, T., Henneton, P., Albuisson, J., Denarié, N., Mazzella, J., Mousseaux, É., et al. (2019) · Journal of the American College of Cardiology · doi:10.1016/j.jacc.2019.01.058 · Cited by 181
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Bowen, J. M., Alava, M. H., Johnson, D. S., Green, C. E., Kammin, T., Baker, D., Keigwin, S., Makino, S., Taylor, N., Watson, O., et al. (2023) · European Journal of Human Genetics · doi:10.1038/s41431-023-01343-7 · Cited by 70
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Yuan, X., Mitsis, A., & Nienaber, C. A. (2022) · Life · doi:10.3390/life12101606 · Cited by 60
Overwater, E., Marsili, L., Baars, M. J. H., Baas, A. F., van de Beek, I., Dulfer, E., van Hagen, J. M., Hilhorst‐Hofstee, Y., Kempers, M. J. E., Krapels, I. P. C., et al. (2018) · Human Mutation · doi:10.1002/humu.23565 · Cited by 61
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Vandervore, L. V., Stouffs, K., Tanyalçin, I., Vanderhasselt, T., Roelens, F., Holder‐Espinasse, M., Jørgensen, A., Pepin, M. G., Petit, F., Kien, P. K. V., et al. (2017) · Journal of Medical Genetics · doi:10.1136/jmedgenet-2016-104421 · Cited by 48
Renner, S., Schüler, H., Alawi, M., Kolbe, V., Rybczynski, M., Woitschach, R., Sheikhzadeh, S., Stark, V. C., Olfe, J., Roser, E., et al. (2019) · Genetics in Medicine · doi:10.1038/s41436-019-0435-z · Cited by 47
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Buso, G., Corvini, F., Fusco, E. M., Messina, M., Cherubini, F., Laera, N., Paini, A., Salvetti, M., Ciuceis, C. D., Ritelli, M., et al. (2024) · Journal of Clinical Medicine · doi:10.3390/jcm13144255 · Cited by 14
Kim, Y. U., Gi, H., Jeong, E. K., Han, S., Seo, W., Kim, Y. J., Lee, S. B., & Kim, K. (2024) · BMB Reports · doi:10.5483/bmbrep.2024-0107 · Cited by 14
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Omar, R., Lee, M. A., Gonzalez-Trueba, L., Thomson, C. R., Hansen, U. J., Lianos, S., Hazarika, S., Abdallah, O. H. E., Ammar, M. A., Cassels, J. E., et al. (2025) · Cell Death Discovery · doi:10.1038/s41420-025-02476-y · Cited by 13
Goudot, G., Papadacci, C., Dizier, B., Baudrie, V., Ferreira, I., Boisson‐Vidal, C., Tanter, M., Jeunemaı̂tre, X., Pernot, M., Messas, E., et al. (2018) · Ultraschall in der Medizin - European Journal of Ultrasound · doi:10.1055/a-0599-0841 · Cited by 13
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Legrand, A., Guery, C., Faugeroux, J., Fontaine, E., Beugnon, C., Gianfermi, A., Ferreira, I., Verpont, M., Adham, S., Mirault, T., et al. (2022) · PLoS Genetics · doi:10.1371/journal.pgen.1010059 · Cited by 13
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van den Bersselaar, L. M., van de Laar, I. M. B. H., Baars, M. J. H., Baas, A. F., Dulfer, E., den Enden, A. T. J. M. H.-V., Hilhorst‐Hofstee, Y., Kauling, R. M., Kempers, M. J. E., Oudijk, M. A., et al. (2025) · BJOG An International Journal of Obstetrics & Gynaecology · doi:10.1111/1471-0528.18142 · Cited by 12
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Mazzella, J. M., Frank, M., Collignon, P., Langeois, M., Legrand, A., Jeunemaı̂tre, X., & Albuisson, J. (2016) · Clinical Genetics · doi:10.1111/cge.12838 · Cited by 12
Self-citationPark, M. A., Shin, S. Y., Kim, Y. J., Park, M. J., & Lee, S. H. (2017) · Medicine · doi:10.1097/md.0000000000008853 · Cited by 12
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Tracz, J. A., Judy, B. F., Jiang, K., Caraway, C. A., Yang, W., Sobreira, N. L. D. M., Khan, M., & Witham, T. F. (2023) · Journal of NeuroInterventional Surgery · doi:10.1136/jnis-2023-020564 · Cited by 11
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Callaghan, M. B., Hadden, R., King, J. S., Lachlan, K. L., van Dijk, F. S., & Turnpenny, P. D. (2019) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.61449 · Cited by 11
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van Dijk, F. S., Ghali, N., & Chandratheva, A. (2023) · Practical Neurology · doi:10.1136/pn-2023-003703 · Cited by 12
Thoracic aortic aneurysm gene dictionary
Rohde, S. C., Zafar, M. A., Ziganshin, B. A., & Elefteriades, J. A. (2020) · Asian Cardiovascular and Thoracic Annals · doi:10.1177/0218492320943800 · Cited by 11
Chehadeh, S. E., Legrand, A., Stoetzel, C., Geoffroy, V., Billon, C., Adham, S., Jeunemaı̂tre, X., Jaussaud, R., Muller, J., Schaefer, É., et al. (2021) · Clinical Genetics · doi:10.1111/cge.13972 · Cited by 11
Phenotype of COL3A1/COL5A2 deletion patients
Kempers, M. J. E., Wessels, M. W., Berendoncks, A. V., van de Laar, I. M. B. H., de Leeuw, N., & Loeys, B. (2022) · European Journal of Medical Genetics · doi:10.1016/j.ejmg.2022.104593 · Cited by 11
Yamaguchi, T., Hayashi, S., Hayashi, D., Matsuyama, T., Koitabashi, N., Ogiwara, K., Noda, M., Nakada, C., Fujiki, S., Furutachi, A., et al. (2022) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.62982 · Cited by 11
Burrows, N. (2019) · Wiley eBooks · doi:10.1002/9781119142812.ch93 · Cited by 11
Awad, A. A., Yappalparvi, A., Khatib, M. N., Roopashree, R., Kaur, M., Srivastava, M., Barwal, A., Prasad, G. V. S., Rajput, P., Syed, R., et al. (2025) · Orphanet Journal of Rare Diseases · doi:10.1186/s13023-025-03854-6 · Cited by 10
Micallef, J., Boutouyrie, P., & Blin, O. (2017) · Fundamental and Clinical Pharmacology · doi:10.1111/fcp.12314 · Cited by 10
Self-citationLui, M., Shadrina, M., Gelb, B. D., & Kontorovich, A. (2023) · Circulation Genomic and Precision Medicine · doi:10.1161/circgen.122.003864 · Cited by 10
Stephens, S. B., Shalhub, S., Dodd, N. A., Li, J., Huang, M., Oda, S., Kancherla, K., Doan, T. T., Prakash, S. K., Weigand, J., et al. (2023) · Journal of the American Heart Association · doi:10.1161/jaha.123.029518 · Cited by 11
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Foehr, R. M., Anderson, K., Dombrowski, O., Foehr, A., & Foehr, E. D. (2024) · Orphanet Journal of Rare Diseases · doi:10.1186/s13023-023-03007-7 · Cited by 11
Metadata
- Authors
- Frank, M., Albuisson, J., Ranque, B., Golmard, L., Mazzella, J.-M., Bal-Theoleyre, L., Fauret, A.-L., Mirault, T., Denarié, N., Mousseaux, E., Boutouyrie, P., Fiessinger, J.-N., Emmerich, J., Messas, E., & Jeunemaitre, X.
- Affiliations
- Inserm (FR)
- Sorbonne Paris Cité (FR)
- Hôpital de la Timone (FR)
- Assistance Publique – Hôpitaux de Paris (FR)
- ORCID
- Venue
- European Journal of Human Genetics
- Published
- 2015-03-11
- Volume
- 23
- Issue
- 12
- Pages
- 1657-1664
- ISSN
- 1018-4813 (ISSN-L)
- 1476-5438
- PMC
- PMC4795191
- OpenAlex
- W2030840013
- Cited by
- 248
- References
- 20
- Citations by year
- 2026: 19 · 2025: 30 · 2024: 27 · 2023: 31 · 2022: 32 · 2021: 23 · 2020: 17 · 2019: 22 · 2018: 19 · 2017: 16 · 2016: 8 · 2015: 4
- FWCI
- 10.71
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Licence
- www.springer.com/tdm (tdm)
- Locations
- European Journal of Human Genetics (publishedVersion)
- PubMed Central (publishedVersion)
- PubMed (publishedVersion)
- Funders
- Agence Nationale de la Recherche (ANR-10-BLAN-1129)
- Institut National de la Santé et de la Recherche Médicale
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Connective tissue disorders research
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Dermatological and Skeletal Disorders
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomics and Rare Diseases
- Keywords
- vascular Ehlers-Danlos syndrome, COL3A1, type III collagen, disease severity, glycine substitution, splice site mutation, haploinsufficiency, missense mutations, triple helix, arterial rupture, genotype-phenotype correlation, genetic counseling
- MeSH terms
- Adult, Ehlers-Danlos Syndrome, Female, Humans, Male, Middle Aged, Phenotype, Gene Deletion, Mutation, Missense, Collagen Type III
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