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NM_000289.6(PFKM):c.283C>T (p.Arg95Ter) AND Glycogen storage disease, type VII

Significance: Pathogenic
ClinVar: RCV000001217

Variant: NM_000289.6(PFKM):c.283C>T (p.Arg95Ter)

Type: Variant
Allele: NM_000289.6(PFKM):c.283C>T (p.Arg95Ter) 16197
Gene:
Type: single nucleotide variant
Location: Chr12: 48526696 - assembly GRCh37
Chr12: 48132913 - assembly GRCh38
References: dbSNP: 121918195
OMIM: 610681.0007

Condition

Disease: Glycogen storage disease, type VII

Citation

    In 3 affected members of an Ashkenazi Jewish family with GSD VII (GSD7; 232800), Vasconcelos et al. (1995) identified a homozygous C-to-T transition in exon 6 of the PFKM gene, resulting in an arg95-to-ter (R95X) substitution. In addition, RT-PCR studies identified an unusual transcript resulting from a 252-bp insertion corresponding to intron 10, which the authors postulated resulted from differential pre-mRNA processing. The R95X substitution was considered to be solely responsible for the disease phenotype. The family showed pseudodominance: an affected woman married to her uncle had 2 affected daughters. She herself was the product of a first-cousin marriage.
PMID:7479776