title: A nonsense mutation (R242X) in the branched-chain alpha-keto acid dehydrogenase E1alpha subunit gene (BCKDHA) as a cause of maple syrup urine disease. Mutations in brief no. 160. Online.
abstract: Mutation analysis of DNA from cultured amniocytes with absent branched-chain alpha-ketoacid dehydrogenase activity revealed a C to T transition producing a nonsense mutation (R242X) in exon 7 of the gene encoding the E1a subunit of this multienzme complex (BCKDHA). This pregnancy occured in a large consanguinous pedigree with mutiple individuals with maple syrup urine disease (MSUD). PCR amplification of the region surrounding exon 7 allowed the identification of this mutation as well as two other previously identified mutations which cause MSUD.
authors.affiliation: Division of Human Genetics, Departments of Pediatrics and Obstetrics/Gynecology, and Department of Microbiology/Immunology, University of Maryland School of Medicine, Baltimore, MD, USA. jchinsky@welchlink.welch.jhu.edu
authors.forename: J
authors.initials: J
authors.lastname: Chinsky
authors.forename: M
authors.initials: M
authors.lastname: Appel
authors.forename: S
authors.initials: S
authors.lastname: Almashanu
authors.forename: P
authors.initials: P
authors.lastname: Costeas
authors.forename: N
authors.initials: N
authors.lastname: Ambulos
authors.forename: R
authors.initials: R
authors.lastname: Carmi
mesh_terms: D042942:3-Methyl-2-Oxobutanoate Dehydrogenase (Lipoamide); D001120:Arginine / Q000235:genetics; D003241:Consanguinity; D006801:Humans; D007658:Ketone Oxidoreductases / Q000235:genetics*; D008375:Maple Syrup Urine Disease / Q000201:enzymology / Q000235:genetics*; D009097:Multienzyme Complexes / Q000235:genetics*; D020125:Mutation, Missense / Q000235:genetics*; D010375:Pedigree
chemical_list: D009097:Multienzyme Complexes; D001120:Arginine; D007658:Ketone Oxidoreductases; D042942:3-Methyl-2-Oxobutanoate Dehydrogenase (Lipoamide)