The type of variants at the COL3A1 gene associates with the phenotype and severity of vascular Ehlers-Danlos syndrome

Frank, Michael; Albuisson, Juliette; Ranque, Brigitte; Golmard, Lisa; Mazzella, Jean-Michael; Bal-Theoleyre, Laurence; Fauret, Anne-Laure; Mirault, Tristan; Denarié, Nicolas; Mousseaux, Elie; Boutouyrie, Pierre; Fiessinger, Jean-Noël; Emmerich, Joseph; Messas, Emmanuel; Jeunemaitre, Xavier

doi:10.1038/ejhg.2015.32

Cited by 251Connective tissue disorders researchDermatological and Skeletal DisordersGenomics and Rare Diseases

The type of variants at the COL3A1 gene associates with the phenotype and severity of vascular Ehlers-Danlos syndrome

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Frank, Michael, Albuisson, Juliette, Ranque, Brigitte, Golmard, Lisa, Mazzella, Jean-Michael, Bal-Theoleyre, Laurence, Fauret, Anne-Laure, Mirault, Tristan +7 more·2015·European Journal of Human Genetics

DOI 10.1038/ejhg.2015.32PMC PMC4795191

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Abstract

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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The majority of disease-causing variants in COL3A1 are glycine substitutions and in-frame splice mutations in the triple helix domain.
“The majority of disease-causing variants in COL3A1 are glycine substitutions and in-frame splice mutations in the triple helix domain”
From Transcriptome analysis of skin fibroblasts with dominant negative COL3A1 mutations provides molecular insights into the etiopathology of vascular Ehlers-Danlos syndrome (2018) · cites this paper as [10]
These mutations act through a dominant negative effect and are associated with the severe clinical spectrum of vEDS, characterized by fragility of soft connective tissues with arterial and organ ruptures.
“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.”
From Transcriptome analysis of skin fibroblasts with dominant negative COL3A1 mutations provides molecular insights into the etiopathology of vascular Ehlers-Danlos syndrome (2018) · cites this paper as [10]
The nature of the specific COL3A1 mutation influences life expectancy.
“the nature of the specific COL3A1 mutation influences life expectancy.”
From Transcriptome analysis of skin fibroblasts with dominant negative COL3A1 mutations provides molecular insights into the etiopathology of vascular Ehlers-Danlos syndrome (2018) · cites this paper as [10]
Splice site mutations that lead to exon skipping have the lowest median survival.
“Splice site mutations that lead to exon skipping have the lowest median survival.”
From Transcriptome analysis of skin fibroblasts with dominant negative COL3A1 mutations provides molecular insights into the etiopathology of vascular Ehlers-Danlos syndrome (2018) · cites this paper as [10]
Heterozygosity for COL3A1 null alleles typically produces a milder clinical phenotype with a significant delayed onset of complications.
“Heterozygosity for COL3A1 null alleles typically produces a milder clinical phenotype with a significant delayed onset of complications [4, 9–12].”
From Transcriptome analysis of skin fibroblasts with dominant negative COL3A1 mutations provides molecular insights into the etiopathology of vascular Ehlers-Danlos syndrome (2018) · cites this paper as [10]

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).
“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).”
From Transcriptome analysis of skin fibroblasts with dominant negative COL3A1 mutations provides molecular insights into the etiopathology of vascular Ehlers-Danlos syndrome (2018) · cites this paper as [10]
This type of mutations produces a dominant negative effect on the protein, thereby inhibiting extracellular accumulation of mature COLLIII.
“This type of mutations produces a dominant negative effect on the protein, thereby inhibiting extracellular accumulation of mature COLLIII.”
From Transcriptome analysis of skin fibroblasts with dominant negative COL3A1 mutations provides molecular insights into the etiopathology of vascular Ehlers-Danlos syndrome (2018) · cites this paper as [10]
COL3A1 missense mutations altering glycine codons together with in-frame splice mutations in the triple helical domain lead to misfolding of COLLIII in the ER and retention of seven eighths of misfolded procollagen trimers in the cell with consequent enlargement of ER vesicles.
“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].”
From Transcriptome analysis of skin fibroblasts with dominant negative COL3A1 mutations provides molecular insights into the etiopathology of vascular Ehlers-Danlos syndrome (2018) · cites this paper as [10]
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.
“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].”
From Transcriptome analysis of skin fibroblasts with dominant negative COL3A1 mutations provides molecular insights into the etiopathology of vascular Ehlers-Danlos syndrome (2018) · cites this paper as [10]

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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: Frank, Michael
Albuisson, Juliette
Ranque, Brigitte
Golmard, Lisa
Mirault, Tristan
Boutouyrie, Pierre
Emmerich, Joseph
Messas, Emmanuel
Venue: European Journal of Human Genetics
Publisher: Springer Science and Business Media LLC
Published: 2015-03-11
Volume: 23
Issue: 12
Pages: 1657-1664
ISSN: 1018-4813 (ISSN-L)
1476-5438
DOI: 10.1038/ejhg.2015.32
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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The type of variants at the COL3A1 gene associates with the phenotype and severity of vascular Ehlers-Danlos syndrome

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