title: Mutations and polymorphisms in the pyruvate dehydrogenase E1 alpha gene.
abstract: We present an update on mutations and polymorphisms in the human X chromosome located pyruvate dehydrogenase E1 alpha gene. A total of 20 different mutations are tabulated. The mutations include deletions, insertions, and point mutations. Certain sequences seem particularly prone to mutation. Most of the mutations are found in exons 10 and 11. Furthermore, four of the mutations are seen in unrelated patients. Little is known about how the mutations affect the structure or function of the pyruvate dehydrogenase complex.
authors.affiliation: Murdoch Institute for Research Into Birth Defects, Royal Children's Hospital, Parkville, Melbourne, Australia.
authors.forename: H H
authors.initials: HH
authors.lastname: Dahl
authors.forename: G K
authors.initials: GK
authors.lastname: Brown
authors.forename: R M
authors.initials: RM
authors.lastname: Brown
authors.forename: L L
authors.initials: LL
authors.lastname: Hansen
authors.forename: D S
authors.initials: DS
authors.lastname: Kerr
authors.forename: I D
authors.initials: ID
authors.lastname: Wexler
authors.forename: M S
authors.initials: MS
authors.lastname: Patel
authors.forename: L
authors.initials: L
authors.lastname: De Meirleir
authors.forename: W
authors.initials: W
authors.lastname: Lissens
authors.forename: K
authors.initials: K
authors.lastname: Chun
mesh_terms: D000595:Amino Acid Sequence; D001483:Base Sequence; D002648:Child; D003062:Codon / Q000235:genetics; D005091:Exons; D005260:Female; D006801:Humans; D008969:Molecular Sequence Data; D009154:Mutation; D011110:Polymorphism, Genetic; D011247:Pregnancy; D011296:Prenatal Diagnosis; D011768:Pyruvate Dehydrogenase Complex / Q000235:genetics*; D015325:Pyruvate Dehydrogenase Complex Deficiency Disease / Q000235:genetics*; D014960:X Chromosome
chemical_list: D003062:Codon; D011768:Pyruvate Dehydrogenase Complex