WISP3, 2-BP INS, 863AC AND Progressive pseudorheumatoid dysplasia

Clinical significance:Pathogenic (Last evaluated: Nov 6, 2007)

Review status:1 star out of maximum of 4 stars

classified by single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000006757.1

Allele description [Variation Report for WISP3, 2-BP INS, 863AC]

Gene:
WISP3:WNT1 inducible signaling pathway protein 3 [Gene - OMIM]
Variant type:
Insertion
Cytogenetic location:
6q22-q23
HGVS:
    Nucleotide change:
    2-BP INS, 863AC
    Links:
    OMIM: 603400.0007

    Condition(s)

    Name:
    Progressive pseudorheumatoid dysplasia (PPAC)
    Synonyms:
    SPONDYLOEPIPHYSEAL DYSPLASIA TARDA WITH PROGRESSIVE ARTHROPATHY; Spondyloepiphyseal dysplasia tarda progressive arthropathy; Progressive pseudorheumatoid arthropathy of childhood; See all synonyms [MedGen]
    Identifiers:
    MedGen: C0432215; Orphanet: 1159; OMIM: 208230
    Age of onset:
    Childhood
    Prevalence:
    1-9 / 1 000 000 1159

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    Assertion and evidence details

    Submission AccessionSubmitterReview StatusClinical Significance
    (Last evaluated)
    OriginMethodConsequenceCitations
    SCV000026949OMIMPathogenic
    (Nov 6, 2007)
    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

    Mutations in the CCN gene family member WISP3 cause progressive pseudorheumatoid dysplasia.

    Hurvitz JR, Suwairi WM, Van Hul W, El-Shanti H, Superti-Furga A, Roudier J, Holderbaum D, Pauli RM, Herd JK, Van Hul EV, Rezai-Delui H, Legius E, Le Merrer M, Al-Alami J, Bahabri SA, Warman ML.

    Nat Genet. 1999 Sep;23(1):94-8.

    PubMed [citation]
    PMID:
    10471507

    Details of each submission

    From OMIM, SCV000026949.1

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

    Description

    In a family from the U.S. with PPAC (208230), Hurvitz et al. (1999) found compound heterozygosity for 2 mutations in the WISP3 gene: a 2-bp insertion at nucleotide 863, resulting in a frameshift at residue 288 with a stop 24 residues downstream, and 2-bp deletion at nucleotide 43 (603400.0008), resulting in a frameshift at residue 15 with a stop 15 residues downstream.

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

    Last Updated: Jan 29, 2015

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