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

Journal Article · Sun May 01 04:00:00 EDT 1994 · American Journal of Human Genetics; (United States)

OSTI ID:7076322

Tsujino, S; Shanske, S; DiMauro, S ^[1]; Servidel, S ^[2]; Tonin, P ^[3]; Azan, G ^[4]

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1. Columbia-Presbyterian Medical Center, New York, NY (United States)
2. Catholic Univ., Rome (Italy)
3. Univ. of Verona (Italy)
4. Istituto Oasi, Sicily (Italy)

The authors 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. 34 refs., 6 figs., 2 tabs.

• OSTI ID: 7076322
• Journal Information: American Journal of Human Genetics; (United States), Journal Name: American Journal of Human Genetics; (United States) Vol. 54:5; ISSN AJHGAG; ISSN 0002-9297
• Country of Publication: United States
• Language: English

Related Subjects

550400* -- Genetics
59 BASIC BIOLOGICAL SCIENCES
CARBOHYDRATES
CHEMICAL REACTIONS
DETECTION
DISEASES
ENZYMES
FRUCTOSE
GENE MUTATIONS
HEXOSES
KETONES
METABOLIC DISEASES
MONOSACCHARIDES
MUTATIONS
ORGANIC COMPOUNDS
PHOSPHORUS-GROUP TRANSFERASES
PHOSPHORYLATION
PHOSPHOTRANSFERASES
PROTEINS
SACCHARIDES
TRANSFERASES