Haploinsufficiency for one COL3A1 allele of type III procollagen results in a phenotype similar to the vascular form of Ehlers-Danlos syndrome, Ehlers-Danlos syndrome type IV

Schwarze, Ulrike; Schievink, Wouter I.; Petty, Elizabeth; Jaff, Michael R.; Babovic-Vuksanovic, Dusica; Cherry, Kenneth J.; Pepin, Melanie; Byers, Peter H.

doi:10.1086/324123

Cited by 184Connective tissue disorders researchDermatological and Skeletal DisordersGenomics and Rare Diseases

Haploinsufficiency for one COL3A1 allele of type III procollagen results in a phenotype similar to the vascular form of Ehlers-Danlos syndrome, Ehlers-Danlos syndrome type IV

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Schwarze, Ulrike, Schievink, Wouter I., Petty, Elizabeth, Jaff, Michael R., Babovic-Vuksanovic, Dusica, Cherry, Kenneth J., Pepin, Melanie, Byers, Peter H.·2001·The American Journal of Human Genetics

DOI 10.1086/324123PMC PMC1274375

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Abstract

Mutations in the COL3A1 gene that encodes the chains of type III procollagen result in the vascular form of Ehlers-Danlos syndrome (EDS), EDS type IV, if they alter the sequence in the triple-helical domain. Although other fibrillar collagen-gene mutations that lead to allele instability or failure to incorporate proalpha-chains into trimers-and that thus reduce the amount of mature molecules produced-result in clinically apparent phenotypes, no such mutations have been identified in COL3A1. Furthermore, mice heterozygous for Col3a1 "null" alleles have no identified phenotype. We have now found three frameshift mutations (1832delAA, 413delC, and 555delT) that lead to premature termination codons (PTCs) in exons 27, 6, and 9, respectively, and to allele-product instability. The mRNA from each mutant allele was transcribed efficiently but rapidly degraded, presumably by the mechanisms of nonsense-mediated decay. In a fourth patient, we identified a point mutation, in the final exon, that resulted in a PTC (4294C-->T [Arg1432Ter]). In this last instance, the mRNA was stable but led to synthesis of a truncated protein that was not incorporated into mature type III procollagen molecules. In all probands, the presenting feature was vascular aneurysm or rupture. Thus, in contrast to mutations in genes that encode the dominant protein of a tissue (e.g., COL1A1 and COL2A1), in which "null" mutations result in phenotypes milder than those caused by mutations that alter protein sequence, the phenotypes produced by these mutations in COL3A1 overlap with those of the vascular form of EDS. This suggests that the major effect of many of these dominant mutations in the "minor" collagen genes may be expressed through protein deficiency rather than through incorporation of structurally altered molecules into fibrils.

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Mutations leading to premature termination of translation and nonsense-mediated mRNA decay are rare (less than 5%).
“Mutations leading to premature termination of translation and nonsense-mediated mRNA decay are rare (less than 5%).”
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 [11]
Null mutations cause half the normal amount of COLLIII to be secreted.
“These null mutations cause half the normal amount of COLLIII to be secreted [11,12].”
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 [11]
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 [11]
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 [11]
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 [11]

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Authors: Schwarze, U., Schievink, W. I., Petty, E., Jaff, M. R., Babovic-Vuksanovic, D., Cherry, K. J., Pepin, M., & Byers, P. H.
Affiliations: University of Washington (US)
Cedars-Sinai Medical Center (US)
University of Michigan (US)
Morristown Medical Center (US)
Mayo Clinic (US)
Corresponding author: Byers, Peter H.
ORCID: Schievink, Wouter I.
Petty, Elizabeth
Jaff, Michael R.
Byers, Peter H.
Venue: The American Journal of Human Genetics
Publisher: Elsevier BV
Published: 2001-11
Volume: 69
Issue: 5
Pages: 989-1001
ISSN: 0002-9297 (ISSN-L)
DOI: 10.1086/324123
PMC: PMC1274375
OpenAlex: W1983040466
Cited by: 184
References: 50
Citations by year: 2026: 2 · 2025: 10 · 2024: 4 · 2023: 10 · 2022: 9 · 2021: 9 · 2020: 15 · 2019: 11 · 2018: 7 · 2017: 7 · 2016: 2 · 2015: 9 · 2014: 6 · 2013: 7 · 2012: 8
FWCI: 2.55
Type: journal article
Language: en
Open access: bronze
doi.org
Licence: www.elsevier.com/tdm/userlicense/1.0/ (tdm)
www.elsevier.com/open-access/userlicense/1.0/ (vor, 4278 d)
Locations: The American Journal of Human Genetics (publishedVersion)
PubMed Central (publishedVersion)
PubMed (publishedVersion)
Funders: National Institutes of Health
National Institute of Arthritis and Musculoskeletal and Skin Diseases (AR-21557, P01AR021557)
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: COL3A1, type III procollagen, haploinsufficiency, Ehlers-Danlos syndrome type IV, vascular Ehlers-Danlos syndrome, frameshift mutation, premature stop codon, nonsense-mediated mRNA decay, mRNA degradation, vascular aneurysm, collagen mutations, protein deficiency
MeSH terms: Alleles, Base Sequence, Cell Nucleus, Cells, Cultured, Collagen, Cytoplasm, DNA Mutational Analysis, Ehlers-Danlos Syndrome, Exons, Fibroblasts, Genes, Dominant, Heterozygote, Humans, Molecular Sequence Data, Mutation, Phenotype, Polymorphism, Genetic, Procollagen, RNA Precursors, RNA, Messenger, Blotting, Western, Frameshift Mutation, Codon, Nonsense, Protein Structure, Quaternary, RNA Stability, Collagen Type III

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Haploinsufficiency for one COL3A1 allele of type III procollagen results in a phenotype similar to the vascular form of Ehlers-Danlos syndrome, Ehlers-Danlos syndrome type IV

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