ArticleJournal of human genetics2006
New splicing mutations in propionic acidemia.
Article in Journal of human genetics, 2006. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.
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Who cites it
13 citing papers in PubMed.
- Development of simple and effective PCR based assay to detectSaudi journal of biological sciences · 2022Article
- Novel mutation causing propionic acidemia associated with unexplained autoimmune thyrotoxicosis.Molecular genetics and metabolism reports · 2021Article
- Expansion of the Phenotypic Spectrum of Propionic Acidemia with Isolated Elevated Propionylcarnitine.JIMD reports · 2017Article
- Methylmalonic and propionic acidemias: clinical management update.Current opinion in pediatrics · 2016Review
- Towards the development of an enzyme replacement therapy for the metabolic disorder propionic acidemia.Molecular genetics and metabolism reports · 2016Article
- Clinical characteristics and mutation analysis of propionic acidemia in Thailand.World journal of pediatrics : WJP · 2014Article
- Antisense mediated splicing modulation for inherited metabolic diseases: challenges for delivery.Nucleic acid therapeutics · 2014Review
- Functional characterization of novel genotypes and cellular oxidative stress studies in propionic acidemia.Journal of inherited metabolic disease · 2013Article
- Structure and function of biotin-dependent carboxylases.Cellular and molecular life sciences : CMLS · 2013Review
- Crystal structure of the alpha(6)beta(6) holoenzyme of propionyl-coenzyme A carboxylase.Nature · 2010Article
- Unusual presentation of propionic acidaemia as isolated cardiomyopathy.Journal of inherited metabolic disease · 2009Article
- Short-term rescue of neonatal lethality in a mouse model of propionic acidemia by gene therapy.Human gene therapy · 2009Article
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6 authors.
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Abstract
Propionic acidemia results from mutations in either of the two genes, PCCA or PCCB, that encode the two subunits of the propionyl-CoA carboxylase (PCC) enzyme. In this study, we report the identification and analysis of seven novel splicing mutations involving consensus donor and acceptor splice sites. Most of them were identified in patients with a Central Asian origin, and some present in several alleles, probably reflecting founder effects. The functional consequences of the splicing mutations were analyzed in patients' fibroblasts, as well as transcript quantification using real-time PCR methods. In the PCCA gene, two mutations were demonstrated to affect 5' splice sites (c.231+1G>C and c.1209+3A>G) and two 3' acceptor splice sites (c.1210delG and c.1430G>T), all causing skipping of the exons involved, with no detectable levels of normally spliced transcript. In the PCCB gene, all three mutations involved 5' donor splice sites-two affected exon 1 splicing (c.154_183+17del46 and c.183+2T>C), the latter activating a cryptic splice site in intron 1, and the remaining mutation (c.1498+2T>C) resulted in exon 14 skipping. The results highlight the necessity to perform transcript analysis in addition to genomic DNA sequencing to characterize the effect of splicing mutations and add relevant information on the genetic epidemiology of the disease.
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