Intronic mutation in the PGK1 gene may cause recurrent myoglobinuria by aberrant splicing.
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.
Shirakawa
Kentaro
K
First Department of Medicine, Hamamatsu University School of Medicine, Hamamatsu, Japan.
Takahashi
Yoshitomo
Y
Miyajima
Hiroaki
H
D000328:Adult; D001483:Base Sequence; D006801:Humans; D007438:Introns / Q000235:genetics*; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation; D009212:Myoglobinuria / Q000201:enzymology / Q000235:genetics*; D010735:Phosphoglycerate Kinase / Q000235:genetics*; D012326:RNA Splicing / Q000235:genetics*; D012008:Recurrence
D010735:Phosphoglycerate Kinase