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| Content Provider | World Health Organization (WHO)-Global Index Medicus |
|---|---|
| Author | Vasconcelos, O. Dubnick, M. Dalakas, M. C. Leon-monzon, M. Quezado, M. Goldfarb, L. G. Sivakumar, K. Nagle, J. Gajdusek, D. C. |
| Description | Author Affiliation: Vasconcelos O ( Clinical Neurogenetics Unit, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD 20892, USA.); |
| Abstract | Mutations in the human phosphofructokinase muscle subunit gene (PFKM) are known to cause myopathy classified as glycogenosis type VII (Tarui disease). Previously described molecular defects include base substitutions altering encoded amino acids or resulting in abnormal splicing. We report a mutation resulting in phosphofructokinase deficiency in three patients from an Ashkenazi Jewish family. Using a reverse transcription PCR assay, PFKM subunit transcripts differing by length were detected in skeletal muscle tissue of all three affected subjects. In the longer transcript, an insertion of 252 nucleotides totally homologous to the structure of the 10th intron of the PFKM gene was found separating exon 10 from exon 11. In addition, two single base transitions were identified by direct sequencing: [exon 6; codon 95; CGA (Arg) to TGA (stop)] and [exon 7; codon 172; ACC (Thr) to ACT (Thr)] in either transcript. Single-stranded conformational polymorphism and restriction enzyme analyses confirmed the presence of these point substitutions in genomic DNA and strongly suggested homozygosity for the pathogenic allele. The nonsense mutation at codon 95 appeared solely responsible for the phenotype in these patients, further expanding genetic heterogeneity of Tarui disease. Transcripts with and without intron 10 arising from identical mutant alleles probably resulted from differential pre-mRNA processing and may represent a novel message from the PFKM gene. |
| ISSN | 00278424 |
| e-ISSN | 10916490 |
| Journal | Proceedings of the National Academy of Sciences of the United States of America |
| Issue Number | 22 |
| Volume Number | 92 |
| Language | English |
| Publisher | National Academy of Sciences |
| Publisher Date | 1995-11-01 |
| Publisher Place | United States |
| Access Restriction | Open |
| Subject Keyword | Glycogen Storage Disease Type VII Genetics Jews Muscle, Skeletal Enzymology Mutation Phosphofructokinase-1 Amino Acid Sequence Codon DNA Primers Exons Frameshift Mutation Genotype Introns Macromolecular Substances Molecular Sequence Data Pedigree Point Mutation Polymerase Chain Reaction Sequence Deletion Multidisciplinary |
| Content Type | Text |
| Resource Type | Article |
| Subject | Multidisciplinary |
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