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

From the First Department of Medicine, Hamamatsu University School of Medicine, Hamamatsu, Japan.

Address correspondence and reprint requests to Dr. Hiroaki Miyajima, First Department of Medicine, Hamamatsu University School of Medicine, 1-20-1 Handayama, Hamamatsu 431-3192, Japan; e-mail: miyajima{at}hama-med.ac.jp

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.

Disclosure: The authors report no conflicts of interest.

Received September 30, 2005. Accepted in final form December 19, 2005.