COL3A1, IVS8DS, G-A, +5 AND Ehlers-Danlos syndrome, type 4 variant

Clinical significance:Pathogenic (Last evaluated: Aug 3, 2000)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000018770.29

Allele description [Variation Report for COL3A1, IVS8DS, G-A, +5]

COL3A1, IVS8DS, G-A, +5

Gene:
COL3A1:collagen type III alpha 1 chain [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
2q31
Preferred name:
COL3A1, IVS8DS, G-A, +5
HGVS:
    Nucleotide change:
    IVS8DS, G-A, +5
    Links:
    OMIM: 120180.0032

    Condition(s)

    Name:
    Ehlers-Danlos syndrome, type 4 variant
    Synonyms:
    EHLERS-DANLOS SYNDROME, TYPE IV, VARIANT
    Identifiers:
    MedGen: CN071423

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    Assertion and evidence details

    Submission AccessionSubmitterReview Status
    (Assertion method)
    Clinical Significance
    (Last evaluated)
    OriginMethodCitations
    SCV000039053OMIMno assertion criteria providedPathogenic
    (Aug 3, 2000)
    germlineliterature only

    PubMed (1)
    [See all records that cite this PMID]

    Byers, P. H. Personal Communication. 1998. Seattle, Wash.

    Summary from all submissions

    EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
    not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

    Citations

    PubMed

    Ehlers-Danlos syndrome type IV.

    Pinto YM, Pals G, Zijlstra JG, Tulleken JE.

    N Engl J Med. 2000 Aug 3;343(5):366-8. No abstract available.

    PubMed [citation]
    PMID:
    10928898

    Details of each submission

    From OMIM, SCV000039053.4

    #EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
    1not providednot providednot providednot providedliterature only PubMed (1)

    Description

    Pinto et al. (2000) described a splice site mutation in the COL3A1 gene (IVS8+5G-A) in a 40-year-old man who did not show the classic phenotype of EDS IV (130050). He had no skin or joint abnormalities. Examination showed necrotic degeneration in vascular walls, aneurysms, and medial degeneration in several tissues. Another notable feature was the finding of a normal collagen profile on electrophoresis, despite the DNA abnormality. The patient had a history of bilateral renal-artery stenosis and spontaneous hematothorax. Laparotomy for possible appendicitis revealed a pulseless ileocolic artery and an ischemic colon. Resection of ischemic intestine was performed on 2 successive days; on the third day laparotomy revealed a ruptured abdominal aorta (from which the patient ultimately died) and 6 days later laparotomy revealed a ruptured gallbladder.

    Byers et al. (2000) stated that their series of patients with EDS IV included 2 with the IVS8+5G-A mutation.

    #SampleMethodObservation
    OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
    1germlinenot providednot providednot providednot providednot providednot providednot providednot provided

    Last Updated: Apr 29, 2017