ArticleAmerican journal of human genetics1995
Mutations in the X-linked E1 alpha subunit of pyruvate dehydrogenase: exon skipping, insertion of duplicate sequence, and missense mutations leading to the deficiency of the pyruvate dehydrogenase complex.
Article in American journal of human genetics, 1995. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers.
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Who cites it
19 citing papers in PubMed, 53 citations in OpenAlex.
- Novel Synonymous and Deep Intronic Variants Causing Primary and Secondary Pyruvate Dehydrogenase Complex Deficiency.Human mutation · 2024Article
- A Missense Variant inBiomedicines · 2022Article
- Pyruvate dehydrogenase deficiency disease detected by the enzyme activity of peripheral leukocytes.Molecular genetics & genomic medicine · 2021Article
- Differential phenotypic expression of a novel PDHA1 mutation in a female monozygotic twin pair.Human genetics · 2019Article
- Clinical manifestations in two patients with pyruvate dehydrogenase deficiency and long-term survival.Human genome variation · 2017Article
- Capture-based high-coverage NGS: a powerful tool to uncover a wide spectrum of mutation types.Genetics in medicine : official journal of the American College of Medical Genetics · 2016Article
- 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
- MRI features of 4 female patients with pyruvate dehydrogenase E1 alpha deficiency.Pediatric neurology · 2011Article
- Genomic features defining exonic variants that modulate splicing.Genome biology · 2010Article
- A cognitively normal PDH-deficient 18-year-old man carrying the R263G mutation in the PDHA1 gene.Journal of inherited metabolic disease · 2009Article
- Dominant versus recessive: molecular mechanisms in metabolic disease.Journal of inherited metabolic disease · 2008Review
- The SR protein SC35 is responsible for aberrant splicing of the E1alpha pyruvate dehydrogenase mRNA in a case of mental retardation with lactic acidosis.Molecular and cellular biology · 2005Article
- A case of PDH-E1 alpha mosaicism in a male patient with severe metabolic lactic acidosis.Journal of inherited metabolic disease · 2001Article
- Pyruvate dehydrogenase E1 alpha deficiency in a family: different clinical presentation in two siblings.Journal of inherited metabolic disease · 1998Article
- Biochemical and molecular analysis of an X-linked case of Leigh syndrome associated with thiamin-responsive pyruvate dehydrogenase deficiency.Journal of inherited metabolic disease · 1997Article
- Disorders of pyruvate carboxylase and the pyruvate dehydrogenase complex.Journal of inherited metabolic disease · 1996Review
- An amino acid substitution in the pyruvate dehydrogenase E1 alpha gene, affecting mitochondrial import of the precursor protein.American journal of human genetics · 1995Article
- Pyruvate dehydrogenase E1 alpha deficiency: males and females differ yet again.American journal of human genetics · 1995Review
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Authors and funding
8 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Human pyruvate dehydrogenase (PDH)-complex deficiency is an inborn error of metabolism that is extremely heterogeneous in its presentation and clinical course. In a study of 14 patients (7 females and 7 males), we have found a mutation in the coding region of the E1 alpha gene in all 14 patients. Two female patients had the same 7-bp deletion at nt 927; another female patient had a 3-bp deletion at nt 931. Another female patient was found to have a deletion of exon 6 in her cDNA. Two other female patients were found to have insertions, one of 13 bp at nt 981 and one of 46 bp at nucleotide 1078. Two male patients were found to have a 4-bp insertion at nucleotide 1163. The remaining six patients all had missense mutations. A male patient and a female patient both had an A1133G mutation. The other missense mutations were C214T, C615A, and C787G (two patients). Five of these mutations are novel mutations, five have been previously reported in other patients, and two were published observations in other patients in an E1 alpha-mutation summary. In the four cases where parent DNA was available, only one mother was found to be a carrier of the same mutation as her child.
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Identifiers
7887409PMC1801155W1900366767What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.