ArticleAmerican journal of human genetics1998
Human propionyl-CoA carboxylase beta subunit gene: exon-intron definition and mutation spectrum in Spanish and Latin American propionic acidemia patients.
Article in American journal of human genetics, 1998. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers.
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Who cites it
17 citing papers in PubMed, 44 citations in OpenAlex.
- Article
- Probability of high-risk genetic matching with oocyte and semen donors: complete gene analysis or genotyping test?Journal of assisted reproduction and genetics · 2022Observational
- A study of transposable element-associated structural variations (TASVs) using a de novo-assembled Korean genome.Experimental & molecular medicine · 2021Article
- SARS-CoV-2 infection in a patient with propionic acidemia.Orphanet journal of rare diseases · 2020Review
- Spectrum of mutations underlying Propionic acidemia and further insight into a genotype-phenotype correlation for the common mutation in Saudi Arabia.Molecular genetics and metabolism reports · 2019Article
- Propionyl-CoA carboxylase - A review.Molecular genetics and metabolism · 2017Review
- Methylmalonic and propionic acidemias: clinical management update.Current opinion in pediatrics · 2016Review
- A novel PCCB mutation in a Thai patient with propionic acidemia identified by exome sequencing.Human genome variation · 2015Article
- Clinical characteristics and mutation analysis of propionic acidemia in Thailand.World journal of pediatrics : WJP · 2014Article
- The molecular landscape of propionic acidemia and methylmalonic aciduria in Latin America.Journal of inherited metabolic disease · 2010Article
- Unusual presentation of propionic acidaemia as isolated cardiomyopathy.Journal of inherited metabolic disease · 2009Article
- Article
- New splicing mutations in propionic acidemia.Journal of human genetics · 2006Article
- Qualitative and quantitative analysis of the effect of splicing mutations in propionic acidemia underlying non-severe phenotypes.Human genetics · 2004Article
- Transcarboxylase 12S crystal structure: hexamer assembly and substrate binding to a multienzyme core.The EMBO journal · 2003Article
- High incidence of propionic acidemia in greenland is due to a prevalent mutation, 1540insCCC, in the gene for the beta-subunit of propionyl CoA carboxylase.American journal of human genetics · 2000Article
- Mutations affecting the beta-beta homomeric interaction in propionic acidaemia: an approach to the determination of the beta-propionyl-CoA carboxylase functional domains.Journal of inherited metabolic disease · 2000Article
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Authors and funding
8 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Propionyl-CoA carboxylase (PCC) is a mitochondrial biotin-dependent enzyme composed of an equal number of alpha and beta subunits. Mutations in the PCCA (alpha subunit) or PCCB (beta subunit) gene can cause the inherited metabolic disease propionic acidemia (PA), which can be life threatening in the neonatal period. Lack of data on the genomic structure of PCCB has been a significant impediment to full characterization of PCCB mutant chromosomes. In this study, we describe the genomic organization of the coding sequence of the human PCCB gene and the characterization of mutations causing PA in a total of 29 unrelated patients-21 from Spain and 8 from Latin America. The implementation of long-distance PCR has allowed us to amplify the regions encompassing the exon/intron boundaries and all the exons. The gene consists of 15 exons of 57-183 bp in size. All splice sites are consistent with the gt/ag rule. The availability of the intron sequences flanking each exon has provided the basis for implementation of screening for mutations in the PCCB gene. A total of 56/58 mutant chromosomes studied have been defined, with a total of 16 different mutations detected. The mutation spectrum includes one insertion/deletion, two insertions, 10 missense mutations, one nonsense mutation, and two splicing defects. Thirteen of these mutations correspond to those not described yet in other populations. The mutation profile found in the chromosomes from the Latin American patients basically resembles that of the Spanish patients.
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