ArticleAmerican journal of human genetics1997
Splicing defects in the COL3A1 gene: marked preference for 5' (donor) spice-site mutations in patients with exon-skipping mutations and Ehlers-Danlos syndrome type IV.
Article in American journal of human genetics, 1997. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 26 papers.
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Who cites it
26 citing papers in PubMed, 73 citations in OpenAlex.
- Juvenile Paget disease with unique compound heterozygous sequence variants in the TNFRSF11B gene.Orphanet journal of rare diseases · 2025Article
- Pediatric pulmonary hemorrhage observed in non-vascular and vascular Ehlers-Danlos syndrome.Orphanet journal of rare diseases · 2025Article
- Integrative analysis of multi-omics data reveals importance of collagen and the PI3K AKT signalling pathway in CAKUT.Scientific reports · 2024Article
- Targeted next-generation sequencing reveals the genetic mechanism of Chinese Marfan syndrome cohort with ocular manifestation.Molecular genetics & genomic medicine · 2024Article
- Vascular Ehlers-Danlos Syndrome: A Comprehensive Natural History Study in a Dutch National Cohort of 142 Patients.Circulation. Genomic and precision medicine · 2024Article
- Bowel Perforation in Vascular Ehlers-Danlos Syndrome: Case Report and Comprehensive Review.Journal of personalized medicine · 2023Article
- COL3A1: Potential prognostic predictor for head and neck cancer based on immune-microenvironment alternative splicing.Cancer medicine · 2023Article
- Comprehensive genetic screening for vascular Ehlers-Danlos syndrome through an amplification-based next-generation sequencing system.American journal of medical genetics. Part A · 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
- Integrative Functional Genomic Analysis in Multiplex Autism Families from Kazakhstan.Disease markers · 2022Article
- ADAMTSL2 gene variant in patients with features of autosomal dominant connective tissue disorders.American journal of medical genetics. Part A · 2021Article
- 99-Case Study of Sporadic Aortic Dissection by Whole Exome Sequencing Indicated Novel Disease-Associated Genes and Variants in Chinese Population.BioMed research international · 2020Article
- A multi-institutional experience in the aortic and arterial pathology in individuals with genetically confirmed vascular Ehlers-Danlos syndrome.Journal of vascular surgery · 2019Article
- Review
- A Novel Heterozygous Mutation of theDisease markers · 2019Article
- The type of variants at the COL3A1 gene associates with the phenotype and severity of vascular Ehlers-Danlos syndrome.European journal of human genetics : EJHG · 2015Article
- SplicePie: a novel analytical approach for the detection of alternative, non-sequential and recursive splicing.Nucleic acids research · 2015Article
- Molecular diagnosis in vascular Ehlers-Danlos syndrome predicts pattern of arterial involvement and outcomes.Journal of vascular surgery · 2014Article
- Spontaneous Carotid-Cavernous Fistula in the Type IV Ehlers-Danlos Syndrome.Journal of Korean Neurosurgical Society · 2014Article
- An unusual genetic variant in the MOCS1 gene leads to complete missplicing of an alternatively spliced exon in a patient with molybdenum cofactor deficiency.Journal of inherited metabolic disease · 2009Article
Corrections and comments
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Authors and funding
3 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Ehlers-Danlos syndrome (EDS) type IV results from mutations in the COL3A1 gene, which encodes the constituent chains of type III procollagen. We have identified, in 33 unrelated individuals or families with EDS type IV, mutations that affect splicing, of which 30 are point mutations at splice junctions and 3 are small deletions that remove splice-junction sequences and partial exon sequences. Except for one point mutation at a donor site, which leads to partial intron inclusion, and a single base-pair substitution at an acceptor site, which gives rise to inclusion of the complete upstream intron into the mature mRNA, all mutations result in deletion of a single exon as the only splice alteration. Of the exon-skipping mutations that are due to single base substitutions, which we have identified in 28 separate individuals, only two affect the splice-acceptor site. The underrepresentation of splice acceptor-site mutations suggests that the favored consequence of 3' mutations is the use of an alternative acceptor site that creates a null allele with a premature-termination codon. The phenotypes of those mutations may differ, with respect to either their severity or their symptomatic range, from the usual presentation of EDS type IV and thus have been excluded from analysis.
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