DES, 3-BP DEL, 720GAA AND Myofibrillar myopathy 1

Clinical significance:Pathogenic (Last evaluated: Mar 15, 2003)

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:
RCV000018327.29

Allele description [Variation Report for DES, 3-BP DEL, 720GAA]

DES, 3-BP DEL, 720GAA

Gene:
DES:desmin [Gene - OMIM - HGNC]
Variant type:
Insertion
Cytogenetic location:
2q35
Preferred name:
DES, 3-BP DEL, 720GAA
HGVS:
    Nucleotide change:
    3-BP DEL, 720GAA
    Links:
    OMIM: 125660.0014

    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
    SCV000038606OMIMno assertion criteria providedPathogenic
    (Mar 15, 2003)
    germlineliterature only

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

    Summary from all submissions

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

    Citations

    PubMed

    On noxious desmin: functional effects of a novel heterozygous desmin insertion mutation on the extrasarcomeric desmin cytoskeleton and mitochondria.

    Schröder R, Goudeau B, Simon MC, Fischer D, Eggermann T, Clemen CS, Li Z, Reimann J, Xue Z, Rudnik-Schöneborn S, Zerres K, van der Ven PF, Fürst DO, Kunz WS, Vicart P.

    Hum Mol Genet. 2003 Mar 15;12(6):657-69. Erratum in: Hum Mol Genet. 2007 Dec 1;16(23):2989-90.

    PubMed [citation]
    PMID:
    12620971

    Details of each submission

    From OMIM, SCV000038606.3

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

    Description

    Schroder et al. (2003) reported a 40-year-old patient with distal myopathy and cardiac arrhythmia (MFM1; 601419). Patient skeletal muscle fibers showed decreased maximal rates of respiration with glutamate and malate, as well as higher amytal sensitivity, indicating an in vivo inhibition of complex I activity. The patient was found to carry a 3-bp deletion in the DES gene (720_722delGAA) leading to deletion of a single lysine at position 240 (K240del). The K240del mutation was incapable of forming a de novo desmin intermediate filament system in SW13 cells and led to disruption of the endogenous intermediate filament network and formation of pathologic protein aggregates in 3T3 cell. This mutation was reported in an erratum, in which the authors stated that the original genetic analysis was incorrect. The original reported mutation was a 1-bp insertion (5141_5143insA) predicted to lead to a truncated desmin (Lys239fsTer242).

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

    Last Updated: Oct 7, 2021

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