PFKM, IVS5DS, G-A, +1 AND Glycogen storage disease, type VII

Clinical significance:Pathogenic (Last evaluated: Dec 1, 1997)

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:
RCV000001215.3

Allele description [Variation Report for PFKM, IVS5DS, G-A, +1]

PFKM, IVS5DS, G-A, +1

Gene:
PFKM:phosphofructokinase, muscle [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
12q13.3
Preferred name:
PFKM, IVS5DS, G-A, +1
HGVS:
    Nucleotide change:
    IVS5DS, G-A, +1
    Links:
    OMIM: 610681.0005

    Condition(s)

    Name:
    Glycogen storage disease, type VII (GSD7)
    Synonyms:
    GSD VII; Glycogen storage disease type 7; Muscle phosphofructokinase deficiency; See all synonyms [MedGen]
    Identifiers:
    MONDO: MONDO:0009295; MedGen: C0017926; Orphanet: 371; OMIM: 232800

    Recent activity

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...

    Assertion and evidence details

    Submission AccessionSubmitterReview Status
    (Assertion method)
    Clinical Significance
    (Last evaluated)
    OriginMethodCitations
    SCV000021365OMIMno assertion criteria providedPathogenic
    (Dec 1, 1997)
    germlineliterature only

    PubMed (4)
    [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

    A 5' splice junction mutation leading to exon deletion in an Ashkenazic Jewish family with phosphofructokinase deficiency (Tarui disease).

    Raben N, Sherman J, Miller F, Mena H, Plotz P.

    J Biol Chem. 1993 Mar 5;268(7):4963-7.

    PubMed [citation]
    PMID:
    8444874

    Common mutations in the phosphofructokinase-M gene in Ashkenazi Jewish patients with glycogenesis VII--and their population frequency.

    Sherman JB, Raben N, Nicastri C, Argov Z, Nakajima H, Adams EM, Eng CM, Cowan TM, Plotz PH.

    Am J Hum Genet. 1994 Aug;55(2):305-13.

    PubMed [citation]
    PMID:
    8037209
    PMCID:
    PMC1918380
    See all PubMed Citations (4)

    Details of each submission

    From OMIM, SCV000021365.2

    #EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
    1not providednot providednot providednot providedliterature only PubMed (4)

    Description

    In 2 Ashkenazi Jewish sisters with GSD VII (GSD7; 232800), Raben et al. (1993) identified a homozygous G-to-A transition at the 5-prime end of intron 5 of the PFKM gene, resulting in a splicing defect and an in-frame deletion of exon 5.

    Sherman et al. (1994) identified this splice site mutation in 11 (61%) of 18 abnormal alleles in 9 Ashkenazi Jewish families with GSD VII, making it the most common PFKM mutation in this population.

    Ristow et al. (1997) reported an Ashkenazi Jewish family in which a a father and son with GSD VII were compound heterozygous for 2 mutations in the PFKM gene: the common exon 5 deletion and a 1-bp deletion in exon 22 (610681.0010). The family had previously been reported by Vorgerd et al. (1996) and was unusual because 2 members in subsequent generations were affected.

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

    Last Updated: Jan 1, 2021

    Support Center