| Deletion at chromosomal band Xp22.12-Xp22.13 involving PDHA1 in a patient with congenital lactic acidosis. | |
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MedLine Citation:
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PMID: 20591708 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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We present a patient with congenital lactic acidosis, agenesis of the corpus callosum, and profound developmental delay. Assays of pyruvate dehydrogenase complex function were normal in lymphocytes, but decreased in fibroblasts. Sequencing of the PDHA1 gene did not reveal deleterious mutations, and BAC based microarray analysis did not reveal any chromosomal abnormality. However, gene dosage analysis with oligonucleotide-based chromosomal microarray revealed a deletion of Xp22.12-Xp22.13 involving complete deletion of PDHA1. This is the first report of a whole gene deletion of PDHA1 detected by oligonucleotide-based microarray. |
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Authors:
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Benjamin H Singer; Ramaswamy K Iyer; Douglas S Kerr; Ayesha Ahmad |
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Publication Detail:
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Type: Case Reports; Journal Article Date: 2010-06-11 |
Journal Detail:
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Title: Molecular genetics and metabolism Volume: 101 ISSN: 1096-7206 ISO Abbreviation: Mol. Genet. Metab. Publication Date: 2010 Sep |
Date Detail:
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Created Date: 2010-08-16 Completed Date: 2011-01-24 Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 9805456 Medline TA: Mol Genet Metab Country: United States |
Other Details:
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Languages: eng Pagination: 87-9 Citation Subset: IM |
Affiliation:
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University of Michigan Medical School, Ann Arbor, MI, USA. |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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Acidosis, Lactic
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congenital,
genetics* Child, Preschool Chromosomes, Human, Pair 22 / genetics* Female Gene Deletion* Humans Protein Array Analysis Pyruvate Dehydrogenase (Lipoamide) / genetics* |
| Chemical | |
Reg. No./Substance:
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EC 1.2.4.1/Pyruvate Dehydrogenase (Lipoamide); EC 1.2.4.1/pyruvate dehydrogenase E1alpha subunit |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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