Intronic mutation in the PGK1 gene may cause recurrent myoglobinuria by aberrant splicing.

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.

• Authors: Kentaro Shirakawa, Yoshitomo Takahashi, Hiroaki Miyajima
• Journal: Neurology (Neurology) Vol. 66 Issue 6 Pg. 925-7 (Mar 28 2006) ISSN: 1526-632X [Electronic] United States
• PMID: 16567715 (Publication Type: Case Reports, Journal Article)

Chemical References

• Phosphoglycerate Kinase

Topics

• Adult
• Base Sequence
• Humans
• Introns (genetics)
• Male
• Molecular Sequence Data
• Mutation
• Myoglobinuria (enzymology, genetics)
• Phosphoglycerate Kinase (genetics)
• RNA Splicing (genetics)
• Recurrence