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)

Mol Genet Metab. 2001 Apr;72(4):322-5. doi: 10.1006/mgme.2001.3158.

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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

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

Substances

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