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PYGM, IVS14, G-A, +1 AND Glycogen storage disease, type V

Significance: Pathogenic
ClinVar: RCV000002395

Variant: PYGM, IVS14, G-A, +1

Type: Variant
Allele: PYGM, IVS14, G-A, +1 17344
Gene:
Type: Deletion
References: OMIM: 608455.0007

Condition

Disease: Glycogen storage disease, type V

Citations

    In a large Finnish kindred, Bruno et al. (1999) described the same mutation. The mutation at the 5-prime splice site of intron 14 was designated as 1844+G-A.
PMID:10450796
    Iyengar et al. (1997) restudied the consanguineous Druze family with McArdle disease (GSD5; 232600) reported by Sarova-Pinhas and Sadeh (1989) and found all affected subjects to be homozygous for a G-to-A transition in the first nucleotide of intron 14 of the PYGM gene, a mutation previously reported by Tsujino et al. (1994). This mutation resulted in activation of an upstream cryptic splice site in exon 14, causing deletion of 67 basepairs from exon 14 and affecting the glucose binding domain of PYGM.
PMID:2703328, PMID:8279469, PMID:9152836