Intronic mutation in the PGK1 gene may cause recurrent myoglobinuria by aberrant splicing.
case_report · Level V
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Abstract
A 33-year-old man with mental retardation and recurrent myoglobinuria demonstrated a deficiency in the phosphoglycerate kinase 1 (PGK1) activity of his muscles and erythrocytes. His PGK1 gene had intronic G-to-A substitution 5 nucleotides downstream from the normal exon 7 5' splice site (IVS7 + 5 G>A). This novel mutation results in a frame shift due to the insertion of 52 bp of intron 7 in the mature mRNA by aberrant splicing.
Medical subject headings
- Introns
- Myoglobinuria
- Phosphoglycerate Kinase
- RNA Splicing