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

Significance: Pathogenic
ClinVar: RCV000001215

Variant: PFKM, IVS5DS, G-A, +1

Type: Variant
Allele: PFKM, IVS5DS, G-A, +1 16195
Gene:
Type: single nucleotide variant
References: OMIM: 610681.0005

Condition

Disease: Glycogen storage disease, type VII

Citations

    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.
PMID:8037209
    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.
PMID:8444874
    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.
PMID:8880699, PMID:9389749