DES, IVS3DS, A-G, +3 AND Myofibrillar myopathy 1

Clinical significance:Pathogenic (Last evaluated: Jan 1, 2012)

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:
RCV000018321.28

Allele description [Variation Report for DES, IVS3DS, A-G, +3]

DES, IVS3DS, A-G, +3

Gene:
DES:desmin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
2q35
Preferred name:
DES, IVS3DS, A-G, +3
HGVS:
    Nucleotide change:
    IVS3, A-G, +3
    Links:
    OMIM: 125660.0008

    Condition(s)

    Name:
    Myofibrillar myopathy 1 (MFM1)
    Synonyms:
    MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED; Desminopathy; Desmin related myopathy (former name); See all synonyms [MedGen]
    Identifiers:
    MONDO: MONDO:0011076; MedGen: C1832370; Orphanet: 98909; OMIM: 601419

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    Assertion and evidence details

    Submission AccessionSubmitterReview Status
    (Assertion method)
    Clinical Significance
    (Last evaluated)
    OriginMethodCitations
    SCV000038600OMIMno assertion criteria providedPathogenic
    (Jan 1, 2012)
    germlineliterature only

    PubMed (3)
    [See all records that cite these PMIDs]

    Summary from all submissions

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

    Citations

    PubMed

    Desmin splice variants causing cardiac and skeletal myopathy.

    Park KY, Dalakas MC, Goebel HH, Ferrans VJ, Semino-Mora C, Litvak S, Takeda K, Goldfarb LG.

    J Med Genet. 2000 Nov;37(11):851-7.

    PubMed [citation]
    PMID:
    11073539
    PMCID:
    PMC1734475

    Linkage of familial dilated cardiomyopathy with conduction defect and muscular dystrophy to chromosome 6q23.

    Messina DN, Speer MC, Pericak-Vance MA, McNally EM.

    Am J Hum Genet. 1997 Oct;61(4):909-17.

    PubMed [citation]
    PMID:
    9382102
    PMCID:
    PMC1715999
    See all PubMed Citations (3)

    Details of each submission

    From OMIM, SCV000038600.3

    #EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
    1not providednot providednot providednot providedliterature only PubMed (3)

    Description

    In a patient with cardiac and skeletal myopathy (MFM1; 601419), Park et al. (2000) identified a heterozygous A-to-G change at the +3 position of the splice donor site of intron 3 of the DES gene. Expression studies confirmed that this mutation caused deletion of exon 3.

    In affected members of a large family diagnosed with autosomal dominant limb-girdle muscular dystrophy and cardiomyopathy (Messina et al., 1997), Greenberg et al. (2012) identified a heterozygous A-to-G transition in intron 3 of the desmin gene. The mutation was found after laser capture microdissection of skeletal muscle and mass spectrometry-based proteomics identified desmin as the major constituent of cytoplasmic inclusions. Initial mapping studies on this family by Messina et al. (1997) had found linkage to chromosome 6q23, and the locus was designated 'LGMD1D.' Subsequent mapping by Greenberg et al. (2012) excluded 6q23 due to absence of cosegregation of this locus with the phenotype in affected family members.

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

    Last Updated: Oct 7, 2021

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