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

Hum Mutat. 2001;17(1):76. doi: 10.1002/1098-1004(2001)17:1<76::AID-HUMU17>3.0.CO;2-0.

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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Amino Acid Oxidoreductases / genetics*
  • Aminomethyltransferase
  • Carrier Proteins / genetics*
  • Genetic Carrier Screening
  • Humans
  • Hydroxymethyl and Formyl Transferases / genetics*
  • Hyperglycinemia, Nonketotic / enzymology
  • Hyperglycinemia, Nonketotic / genetics*
  • Introns / genetics
  • Multienzyme Complexes / genetics*
  • Mutation / genetics*
  • Polymerase Chain Reaction
  • RNA Splice Sites / genetics*
  • Transferases / genetics*

Substances

  • Carrier Proteins
  • Multienzyme Complexes
  • RNA Splice Sites
  • glycine cleavage system
  • Amino Acid Oxidoreductases
  • Transferases
  • Hydroxymethyl and Formyl Transferases
  • Aminomethyltransferase