title: A splice junction mutation in a new myopathic variant of phosphoglycerate kinase deficiency (PGK North Carolina).
abstract: We report on a 12-year-old boy with the myopathic form of phosphoglycerate kinase (PGK) deficiency, and unique kinetic and physical characteristics of the mutant enzyme (PGK North Carolina). A G-to-T substitution at the 5' end of intron 4 was identified in the PGK gene of this patient. The mutation destroys the consensus sequence GT at the 5' splice junction of the intron. Activation of a cryptic splice site within intron 4 causes the insertion into the transcript of a 30-bp fragment at the 5' end of intron 4. This insertion results in ten additional amino acids within the "nose" of the PGK molecule, but does not generate a frameshift or a premature stop codon.
authors.affiliation: H. Houston Merritt Clinical Research Center for Muscular Dystrophy and Related Disease, Department of Neurology, Columbia-Presbyterian Medical Center, New York, NY 10032.
authors.forename: S
authors.initials: S
authors.lastname: Tsujino
authors.forename: P
authors.initials: P
authors.lastname: Tonin
authors.forename: S
authors.initials: S
authors.lastname: Shanske
authors.forename: V
authors.initials: V
authors.lastname: Nohria
authors.forename: R M
authors.initials: RM
authors.lastname: Boustany
authors.forename: D
authors.initials: D
authors.lastname: Lewis
authors.forename: Y T
authors.initials: YT
authors.lastname: Chen
authors.forename: S
authors.initials: S
authors.lastname: DiMauro
mesh_terms: D001483:Base Sequence; D002648:Child; D004252:DNA Mutational Analysis; D006801:Humans; D007438:Introns; D008297:Male; D008969:Molecular Sequence Data; D009135:Muscular Diseases / Q000201:enzymology* / Q000235:genetics*; D010735:Phosphoglycerate Kinase / Q000172:deficiency* / Q000235:genetics*; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D012326:RNA Splicing / Q000235:genetics
chemical_list: D010735:Phosphoglycerate Kinase