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: J R Toone, D A Applegarth, M B Coulter-Mackie, E R James
• Journal: Molecular genetics and metabolism (Mol Genet Metab) Vol. 72 Issue 4 Pg. 322-5 (Apr 2001) ISSN: 1096-7192 [Print] United States
• PMID: 11286506 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't)
• Copyright: Copyright 2001 Academic Press.

Chemical References

• DNA Primers
• Imines
• phenyldiazene
• Amino Acid Oxidoreductases
• Glycine Dehydrogenase (Decarboxylating)
• Hydroxymethyl and Formyl Transferases
• Aminomethyltransferase
• Glycine

Topics

• Amino Acid Oxidoreductases (genetics)
• Aminomethyltransferase
• DNA Primers (chemistry)
• Exons
• Gene Frequency
• Glycine (blood, metabolism)
• Glycine Dehydrogenase (Decarboxylating)
• Heterozygote
• Humans
• Hydroxymethyl and Formyl Transferases (deficiency, genetics)
• Hyperglycinemia, Nonketotic (enzymology, genetics)
• Imines
• Infant, Newborn
• Ketosis
• Liver (enzymology)
• Mutation
• Polymerase Chain Reaction
• Prenatal Diagnosis