COL3A1, GLY297ARG AND Ehlers-Danlos syndrome, type 4

Clinical significance:Pathogenic (Last evaluated: Oct 28, 2013)

Review status:

classified by single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000018769.26

Allele description [Variation Report for COL3A1, GLY297ARG]

Gene:
COL3A1:collagen, type III, alpha 1 [Gene - OMIM]
Variant type:
single nucleotide variant
Cytogenetic location:
2q31
HGVS:
    Protein change:
    G297R; GLY297ARG
    Links:
    OMIM: 120180.0031

    Condition(s)

    Name:
    Ehlers-Danlos syndrome, type 4
    Identifiers:
    MedGen: C0268338; OMIM: 130050; Orphanet: 286
    Age of onset:
    Neonatal/infancy
    Prevalence:
    1-9 / 100 000 286

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    Assertion and evidence details

    Submission AccessionSubmitterReview StatusClinical Significance
    (Last evaluated)
    OriginMethodConsequenceCitations
    SCV000039052OMIMPathogenic
    (Oct 28, 2013)
    germlineliterature only

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

    Summary from all submissions

    EthnicityOriginAffectedAlleles observedFamiliesChromosomes testedNumber TestedFamily historyMethod
    not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

    Citations

    PubMed

    Ehlers-Danlos syndrome type IV: unusual congenital anomalies in a mother and son with a COL3A1 mutation and a normal collagen III protein profile.

    Kroes HY, Pals G, van Essen AJ.

    Clin Genet. 2003 Mar;63(3):224-7. Erratum in: Clin Genet. 2003 Oct;64(4):375.

    PubMed [citation]
    PMID:
    12694234

    Details of each submission

    From OMIM, SCV000039052.1

    #EthnicityAlleles ObservedChromosomes TestedFamily HistoryMethodCitations
    1not providednot providednot providednot providedliterature only PubMed (1)

    Description

    In a mother and son with EDS type IV (130050) and unusual congenital anomalies, Kroes et al. (2003) identified an 889G-A transition in the COL3A1 gene, resulting in a gly297-to-arg (G297R) substitution. The mother had amniotic band-like constrictions on one hand, a unilateral clubfoot, and macrocephaly owing to normal-pressure hydrocephalus; the son had esophageal atresia and hydrocephalus. The patients were also anomalous in that protein analysis of collagen III in cultured fibroblasts of the mother showed no abnormalities. Kroes et al. (2003) referred to another patient in which the collagen profile was normal on electrophoresis but a pathogenic mutation was identified (120180.0032). In that case also the phenotype was atypical and the mutation was located relatively near the N terminus of the protein. (The numbering originally used by Kroes et al. (2003) started at the collagen part of the gene, with the first glycine codon of the triple helix, and the mutation was stated to be a 388G-A transition resulting in a GLY130ARG (G130R) substitution.)

    #SampleMethodObservation
    OriginAffectedNumber testedTissuePurposeMethodVariant allelesAllele frequencyFamiliesCo-occurrences
    1germlinenot providednot providednot providednot providednot providednot providednot providednot provided

    Last Updated: Jun 27, 2014

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