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American Journal of Human Genetics logoLink to American Journal of Human Genetics
. 1994 May;54(5):812–819.

Identification of three novel mutations in non-Ashkenazi Italian patients with muscle phosphofructokinase deficiency.

S Tsujino 1, S Servidei 1, P Tonin 1, S Shanske 1, G Azan 1, S DiMauro 1
PMCID: PMC1918246  PMID: 7513946

Abstract

We have identified three novel mutations in four non-Ashkenazi Italian patients with muscle phosphofructokinase (PFK-M) deficiency (Tarui disease). Patient 1 was homozygous for an A-to-C substitution at the 3' end of intron 6 of the PFK-M gene, changing the consensus splice-junction sequence AG to CG. The mutation leads to activation of two cryptic splice sites in exon 7, resulting in one 5 bp- and one 12 bp-deleted transcript. An affected brother was also homozygous, and both parents were heterozygous, for the splice-junction mutation. Patient 2 was homozygous for a G-to-C substitution at codon 39, changing an encoded arginine (CGA) to proline (CCA). Patient 3 was heterozygous for an A-to-C substitution at codon 543, changing an encoded aspartate (GAC) to alanine (GCC); the PFK-M gene on the other allele was not expressed, but sequencing of the reported regulatory region of the gene did not reveal any mutation.

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