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A splice junction mutation in a new myopathic variant of phosphoglycerate kinase deficiency (PGK North Carolina)
Author(s) -
Tsujino Seiichi,
Tonin Paola,
Shanske Sara,
Nohria Virinder,
Boustany RoseMary,
Lewis Darrell,
Chen YuanTuong,
DiMauro Salvatore
Publication year - 1994
Publication title -
annals of neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 4.764
H-Index - 296
eISSN - 1531-8249
pISSN - 0364-5134
DOI - 10.1002/ana.410350316
Subject(s) - intron , phosphoglycerate kinase , frameshift mutation , genetics , mutation , splice site mutation , biology , mutant , splice , gene , rna splicing , microbiology and biotechnology , rna
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.