A novel splicing mutation in propionic acidemia associated with a tetranucleotide direct repeat in the PCCB gene.
Propionic acidemia is an inborn error of organic acid metabolism caused by a deficiency of propionyl Coenzyme A (CoA) carboxylase. cDNAs sequenced from a beta subunit deficient Japanese patient (no. 187) showed an in-frame 57-bp deletion in one allele. Genomic DNA analysis revealed a four-nucleotide deletion of bases 3 to 6 in the 3' intron adjacent to the deleted exon, which disrupted the consensus 5' splice signal and caused exon skipping. This deletion removed one-half of a tetranucleotide direct repeat at the splice junction and presumably resulted from slipped mispairing.
Ohura
T
T
Department of Pediatrics, Tohoku University School of Medicine, Sendai, Japan.
Narisawa
K
K
Tada
K
K
Iinuma
K
K
D000214:Acyl Coenzyme A / Q000378:metabolism; D001483:Base Sequence; D002262:Carboxy-Lyases / Q000172:deficiency / Q000235:genetics*; D005260:Female; D006801:Humans; D007564:Japan / Q000453:epidemiology; D008661:Metabolism, Inborn Errors / Q000453:epidemiology / Q000235:genetics*; D043586:Methylmalonyl-CoA Decarboxylase; D008969:Molecular Sequence Data; D009154:Mutation; D011422:Propionates / Q000378:metabolism; D012326:RNA Splicing; D012091:Repetitive Sequences, Nucleic Acid / Q000235:genetics*
D000214:Acyl Coenzyme A; D011422:Propionates; C009061:propionyl-coenzyme A; D002262:Carboxy-Lyases; D043586:Methylmalonyl-CoA Decarboxylase; C029658:propionic acid