title: Recurrent mutations in P- and T-proteins of the glycine cleavage complex and a novel T-protein mutation (N145I): a strategy for the molecular investigation of patients with nonketotic hyperglycinemia (NKH).
abstract: Screening a DNA bank from 50 patients with enzymatic confirmation of their diagnosis of nonketotic hyperglycinemia gave allele frequencies of 5% for R515S of P-protein (glycine decarboxylase) and 7% for R320H of T-protein (aminomethyltransferase). In a previous report we found that 3% of the same patient alleles were positive for T-protein IVS7-1G>A. In total, testing for these three mutations identified 15% of alleles and positive results (one or two mutations) were found in 11 of the 50 patients. In addition, a novel point mutation in T-protein, N145I, was found in a single case and a PCR/restriction enzyme assay was developed for its detection.
authors: Department of Pediatrics, University of British Columbia, Vancouver, British Columbia, Canada.
authors: J R
authors: JR
authors: Toone
authors: D A
authors: DA
authors: Applegarth
authors: M B
authors: MB
authors: Coulter-Mackie
authors: E R
authors: ER
authors: James
mesh_terms: D000594:Amino Acid Oxidoreductases / Q000235:genetics*; D050960:Aminomethyltransferase; D017931:DNA Primers / Q000737:chemistry; D005091:Exons; D005787:Gene Frequency; D005998:Glycine / Q000097:blood* / Q000378:metabolism; D050841:Glycine Dehydrogenase (Decarboxylating); D006579:Heterozygote; D006801:Humans; D019877:Hydroxymethyl and Formyl Transferases / Q000172:deficiency* / Q000235:genetics*; D020158:Hyperglycinemia, Nonketotic / Q000201:enzymology / Q000235:genetics*; D007097:Imines; D007231:Infant, Newborn; D007662:Ketosis; D008099:Liver / Q000201:enzymology; D009154:Mutation; D016133:Polymerase Chain Reaction; D011296:Prenatal Diagnosis
chemical_list: D017931:DNA Primers; D007097:Imines; C011981:phenyldiazene; D000594:Amino Acid Oxidoreductases; D050841:Glycine Dehydrogenase (Decarboxylating); D019877:Hydroxymethyl and Formyl Transferases; D050960:Aminomethyltransferase; D005998:Glycine