T. Hamaguchi et al., A NEW VARIANT OF MUSCLE PHOSPHOFRUCTOKINASE DEFICIENCY IN A JAPANESE CASE WITH ABNORMAL RNA SPLICING, Biochemical and biophysical research communications, 202(1), 1994, pp. 444-449
A genetic defect was investigated in a newly diagnosed Japanese case w
ith muscle type phosphofructokinase (PFK-M) deficiency. Polymerase cha
in reaction (PCR) amplification of patient cDNA revealed an in-frame t
runcation of 165 bases. This was compatible to the complete deletion o
f exon 19. The rest of the sequence was identical to that of the norma
l PFK-M cDNA. Sequencing of PCR amplified genomic DNA of the patient r
evealed a point mutation from G to A at the 5'donor site of intron 19.
This mutation resulted in the skipping of exon 19 in the patient mRNA
. Homozygosity of this patient was confined by allele specific amplifi
cation of the genomic DNA. Donor mutations in intron 15 and intron 5 a
ssociated with different splicing errors were previously reported to c
ause this disease. Thus, the human PFK-M gene mutations are heterogene
ous, however, the donor mutations and splicing errors would represent
one of the frequent causes of this disease. (C) 1994 Academic Press, I
nc.