title: Identification of the first reported splice site mutation (IVS7-1G-->A) in the aminomethyltransferase (T-protein) gene (AMT) of the glycine cleavage complex in 3 unrelated families with nonketotic hyperglycinemia.
abstract: A novel splice site mutation (IVS7-1G-->A) in the T-protein gene (aminomethyltransferase, or AMT) of the glycine cleavage enzyme complex was found in a patient with nonketotic hyperglycinemia (NKH). A PCR/restriction enzyme method to detect this mutation was used to screen 100 NKH alleles and identified the mutation in three unrelated families.
authors.affiliation: Department of Pediatrics, University of British Columbia, Vancouver, British Columbia, Canada.
authors.forename: J R
authors.initials: JR
authors.lastname: Toone
authors.forename: D A
authors.initials: DA
authors.lastname: Applegarth
authors.forename: M B
authors.initials: MB
authors.lastname: Coulter-Mackie
authors.forename: E R
authors.initials: ER
authors.lastname: James
mesh_terms: D000594:Amino Acid Oxidoreductases / Q000235:genetics*; D050960:Aminomethyltransferase; D002352:Carrier Proteins / Q000235:genetics*; D006580:Genetic Carrier Screening; D006801:Humans; D019877:Hydroxymethyl and Formyl Transferases / Q000235:genetics*; D020158:Hyperglycinemia, Nonketotic / Q000201:enzymology / Q000235:genetics*; D007438:Introns / Q000235:genetics; D009097:Multienzyme Complexes / Q000235:genetics*; D009154:Mutation / Q000235:genetics*; D016133:Polymerase Chain Reaction; D022821:RNA Splice Sites / Q000235:genetics*; D014166:Transferases / Q000235:genetics*
chemical_list: D002352:Carrier Proteins; D009097:Multienzyme Complexes; D022821:RNA Splice Sites; C064525:glycine cleavage system; D000594:Amino Acid Oxidoreductases; D014166:Transferases; D019877:Hydroxymethyl and Formyl Transferases; D050960:Aminomethyltransferase