ArticleJournal of inherited metabolic disease1993
Three independent mutations in the same exon of the PCCB gene: differences between Caucasian and Japanese propionic acidaemia.
Article in Journal of inherited metabolic disease, 1993. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.
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Who cites it
8 citing papers in PubMed, 35 citations in OpenAlex.
- Investigating the structural impacts of a novel missense variant identified with whole exome sequencing in an Egyptian patient with propionic acidemia.Molecular genetics and metabolism reports · 2020Article
- Biochemical and genetic approaches to the prenatal diagnosis of propionic acidemia in 78 pregnancies.Orphanet journal of rare diseases · 2020Article
- A novel delins (c.773_819+47delinsAA) mutation of the PCCA gene associated with neonatal-onset propionic acidemia: a case report.BMC medical genetics · 2020Article
- Mutation analysis in 54 propionic acidemia patients.Journal of inherited metabolic disease · 2012Article
- Unusual presentation of propionic acidaemia as isolated cardiomyopathy.Journal of inherited metabolic disease · 2009Article
- Human propionyl-CoA carboxylase beta subunit gene: exon-intron definition and mutation spectrum in Spanish and Latin American propionic acidemia patients.American journal of human genetics · 1998Article
- Mutations participating in interallelic complementation in propionic acidemia.American journal of human genetics · 1994Article
- Identification of the insertion/deletion mutation in Spanish beta-propionyl-CoA carboxylase-deficient patients.Journal of inherited metabolic disease · 1994Article
Corrections and comments
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Authors and funding
5 authors at 3 institutions in 4 countries.
Funding
Abstract
Propionic acidaemia is an inborn error of organic acid metabolism caused by deficiency of propionyl-CoA carboxylase (PCC). Enzyme deficiency can result from mutations in either of the non-identical alpha- and beta-subunits. We have screened genomic DNA from patients with defects in the beta-subunit from two ethnic groups (Caucasians and Japanese) and detected three types of mutations in the same exon of the coding sequence of the beta-subunit: an insertion/deletion that replaces 14 nucleotides with 12 nucleotides of unrelated sequence and eliminates an Msp I site; a 3-bp deletion of a single isoleucine codon immediately proximal to that Msp I site; and a C-->T transition in the same Msp I site. The insertion/deletion was detected only in Caucasian patients in 11 of 34 mutant alleles; the C-->T transition was found only in Japanese patients in 4 of 12 mutant alleles. Following digestion of genomic DNA by Msp I, both of these mutations were detected on Southern blots by the presence of a 2.7-kbp band; they can be distinguished from one another by allele-specific oligonucleotide hybridization following PCR amplification. These results underscore the independent origin of the mutations in the two populations and suggest a key role of this exon in the beta-subunit of PCC.
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