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: J R Toone, D A Applegarth, M B Coulter-Mackie, E R James
• Journal: Human mutation (Hum Mutat) Vol. 17 Issue 1 Pg. 76 ( 2001) ISSN: 1098-1004 [Electronic] United States
• PMID: 11139253 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't)
• Copyright: Copyright 2001 Wiley-Liss, Inc.

Chemical References

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

Topics

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