ArticleHuman genetics2008
Somatic mosaicism for a PDHA1 mutation in a female with pyruvate dehydrogenase deficiency.
Article in Human genetics, 2008. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers.
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Who cites it
11 citing papers in PubMed, 17 citations in OpenAlex.
- Consensus Guidelines for Diagnosis and Management of Pyruvate Dehydrogenase Complex Deficiency.Journal of inherited metabolic disease · 2026Review
- Differential phenotypic expression of a novel PDHA1 mutation in a female monozygotic twin pair.Human genetics · 2019Article
- Microenvironmental control of glucose metabolism in tumors by regulation of pyruvate dehydrogenase.International journal of cancer · 2019Review
- The phenotype of adult versus pediatric patients with inborn errors of metabolism.Journal of inherited metabolic disease · 2018Article
- Thiamine-Responsive and Non-responsive Patients with PDHC-E1 Deficiency: A Retrospective Assessment.JIMD reports · 2015Article
- Somatic mosaicism for a novelMolecular genetics and metabolism reports · 2014Article
- The spectrum of pyruvate dehydrogenase complex deficiency: clinical, biochemical and genetic features in 371 patients.Molecular genetics and metabolism · 2012Article
- The spectrum of pyruvate dehydrogenase complex deficiency: clinical, biochemical and genetic features in 371 patients.Molecular genetics and metabolism · 2012Review
- Increased superoxide accumulation in pyruvate dehydrogenase complex deficient fibroblasts.Molecular genetics and metabolism · 2011Article
- MRI features of 4 female patients with pyruvate dehydrogenase E1 alpha deficiency.Pediatric neurology · 2011Article
- Genes, patients, families, doctors-mutation analysis in clinical practice.Journal of inherited metabolic disease · 2009Article
Corrections and comments
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Authors and funding
4 authors at 2 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Somatic mosaicism for a mutation in the X-linked PDHA1 gene was found in a girl who presented with manifestations of pyruvate dehydrogenase deficiency. Mutation in the PDHA1 gene was suggested by a mosaic pattern of E1alpha subunit immunostaining; however, initial screening of cDNA and the exons and intron-exon boundaries yielded only normal sequence, apart from a heterozygous 4 bp insertion in intron 10. This was considered to be a polymorphism as it is also present in her unaffected mother who has normal enzyme activity and uniform E1alpha immunostaining in fibroblasts. Detailed genetic analysis, which included isolation of cloned fibroblasts expressing the mutant X chromosome, resulted in the identification of a base substitution in the acceptor splice site of intron 9 which leads to activation of a cryptic upstream splice site. The proportion of cells expressing the mutation was then determined by direct analysis of the X-inactivation pattern. Genetic diagnosis in this unique case of PDHA1 somatic mosaicism was complicated by the absence of an abnormal transcript in primary fibroblasts, the presence of three different alleles and an X-inactivation pattern favouring expression of the normal, paternal, X chromosome. Although the mutation was only present in a proportion of cells, and only expressed in a subset of these due to random X-inactivation, the resulting enzyme defect was sufficient to be clinically apparent.
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