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)1

Molecular Genetics and Metabolism

Volumn 72, Issue 4, 2001, Pages 322-325

  Toone, Jennifer R ^a,b   Applegarth, Derek A ^a,b   Coulter Mackie, Marion B ^a   James, Erick R ^a  

^a UNIVERSITY OF BRITISH COLUMBIA   (Canada)

^b BC CHILDREN S HOSPITAL   (Canada)

Author keywords

Aminomethytransferase; AMT; GLDC; Glycine decarboxylase; Mutation; NKH; Nonketotic hyperglycinemia; P protein; T.protein

Indexed keywords

GLYCINE CLEAVAGE SYSTEM; RESTRICTION ENDONUCLEASE;

AMINO ACID SEQUENCE; ARTICLE; CLINICAL ARTICLE; CONTROLLED STUDY; GENE FREQUENCY; GENE MUTATION; HUMAN; HYPERGLYCINEMIA; POINT MUTATION; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL;

EID: 0035715366     PISSN: 10967192     EISSN: None     Source Type: Journal    
DOI: 10.1006/mgme.2001.3158     Document Type: Article

References (15)

1. Nonketotic hyperglycinemia: Molecular lesion, diagnosis and pathophysiology
2. Biochemical and molecular investigations of patients with nonketotic hyperglycinemia
3. Defective glycine cleavage system in nonketotic hyperglycinemia: Occurrence of a less active glycine decarboxylase and an abnormal aminomethyl carrier protein
4. Identification of 2 missense mutations in a dihydrolipoamide dehydrogenase-deficient patient
5. Identification of the mutations in the T-protein gene causing typical and atypical nonketotic hyperglycinemia
6. A one base-deletion (183 del C) and a missense mutation (D276H) in the T protein gene from a Japanese family with NKH
7. A missense mutation (His 42 Arg) in the T-protein gene from a large Israeli-Arab kindred with nonketotic hyperglycinemia
8. Identification of the first reported splice site mutation (IVS7-1G>A) in the aminomethyltransferase (T-protein) gene of the glycine cleavage complex in 3 unrelated families with nonketotic hyperglycinemia
9. Structural and expression analyses of normal and mutant mRNA encoding glycine decarboxylase: Three-base deletion in mRNA causes nonketotic hyperglycinemia
10. Human glycine decarboxylase gene (GLDC) and its highly conserved processed pseudogene (ψ GLDC): Their structure and expression, and the identification of a large deletion in a family with nonketotic hyperglycinemia
11. Identification of a common mutation in Finnish patients with nonketotic hyperglycinemia
12. Prenatal diagnosis of nonketotic hyperglycinemia: Enzymatic analysis of the glycine cleavage system in chorionic villi
13. Nonketotic hyperglycinemia: Mutation spectra of the GLDC and AMT genes in Finnish and non-Finnish populations
14. Nonconcordance of CVS and liver glycine cleavage enzyme in three families with non-ketotic hyperglycinemia (NKH) leading to false negative prenatal diagnoses
15. Prenatal diagnosis of nonketotic hyperglycinemia: Enzymatic diagnosis in 28 families and DNA diagnosis detecting prevalent Finnish and Israeli-Arab mutations