Genetic heterogeneity of the GLDC gene in 28 unrelated patients with glycine encephalopathy

Journal of Inherited Metabolic Disease

Volumn 29, Issue 1, 2006, Pages 135-142

  Conter, C ^a   Rolland, M O ^a   Cheillan, D ^a   Bonnet, V ^a   Maire, I ^a   Froissart, Roseline ^a  

^a HÔPITAL DEBROUSSE   (France)

Author keywords

[No Author keywords available]

Indexed keywords

CARBOXYLYASE; GLYCINE; GLYCINE CLEAVAGE SYSTEM; GLYCINE DECARBOXYLASE; UNCLASSIFIED DRUG;

ALLELE; AMINO ACID SUBSTITUTION; ARTICLE; BRAIN DISEASE; CLINICAL ARTICLE; CONTROLLED STUDY; FEMALE; GENE DELETION; GENE EXPRESSION; GENE IDENTIFICATION; GENE INSERTION; GENE MUTATION; GENE SEQUENCE; GENETIC CODE; GENETIC HETEROGENEITY; GENOTYPE; HUMAN; HYPERGLYCINEMIA; INFANT; INTRON; MALE; MUTATIONAL ANALYSIS; NEWBORN; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; PATHOGENICITY; PRENATAL DIAGNOSIS; PROTEIN PROCESSING; SEQUENCE ANALYSIS;

ALLELES; CHROMATOGRAPHY, HIGH PRESSURE LIQUID; DNA MUTATIONAL ANALYSIS; DNA PRIMERS; FEMALE; GENE DELETION; GLYCINE; GLYCINE DEHYDROGENASE (DECARBOXYLATING); HUMANS; HYPERGLYCINEMIA, NONKETOTIC; MALE; RNA SPLICING; SEQUENCE ANALYSIS, DNA; TREATMENT OUTCOME;

EID: 33645698778     PISSN: 01418955     EISSN: 15732665     Source Type: Journal    
DOI: 10.1007/s10545-006-0202-6     Document Type: Article

References (22)

1. Applegarth DA, Toone JR, Rolland MO, Black SH, Yim DKC, Bemis G (2000) Non concordance of CVS and liver glycine cleavage enzyme in 3 families with NKH leading to false negative prenatal diagnoses. Prenat Diagn 20: 367-370.
2. Applegarth DA, Toone JR (2004) Glycine encephalopathy (nonketotic hyperglycinemia): Review and update. J Inherit Metab Dis 27: 417-422.
3. Hamosh A, Johnston MV (2001) Nonketotic hyperglycinemia. In: Scriver CR, Beaudet al, Sly WS, Valle D, eds; Childs B, Kinzler KW, Vogelstein B, assoc.eds. The Metabolic and Molecular Bases of Inherited Disease. 8th edn. Disease, New York: McGraw-Hill, 2065-2078.
4. Hiraga K, Kochi H, Hayasaka K, Kikuchi G, Nyhan WL (1981) Defective glycine cleavage system in nonketotic hyperglycinemia. Occurrence of a less active decarboxylase and an abnormal aminomethyl carrier protein. J Clin Invest 68: 525-534.
5. Hoover-Fong JE, Shah S, Van Hove JL, Applegarth DA, Toone JR, Hamosh A (2003) Natural history of glycine encephalopathy in 65 patients. J Inherit Metab Dis 26 (Supplement 2): A128-O.
6. Kure S, Narisawa K, Tada K (1992) Enzymatic diagnosis of nonketotic hyperglycinemia with lymphoblasts. J Pediatr 120: 95-98.
7. Kure S, Shinka T, Sakata Y, et al (1998) A one-base deletion (183delC) and a missense mutation (D276H) in the T-protein gene from a Japanese family with nonketotic hyperglycinemia. J Hum Genet 43: 135-137.
8. Kure S, Takayanagi M, Kurihara Y, et al (1999) Nonketotic hyperglycinemia: Mutation spectra of the GLDC and AMT gene in Finnish and non-Finnish populations. Am J Hum Genet 65: A2406.
9. Kure S, Kojima K, Ichinohe A, Aoki Y, et al (2003) A comprehensive mutation analysis of GLDC, AMT and GCSH in glycine encephalopathy. J Inherit Metab Dis 26 (Supplement 2): 132-O.
10. Kure S, Ichinohe A, Kojima K, et al (2004) Mild variant of nonketotic hyperglycinemia with typical neonatal presentations: Mutational and in vitro expression analyses in two patients. J Pediatr 144: 827-829.
11. Liu W, Smith DI, Rechtzigel KJ, Thibodeau SN, James CD (1998) Denaturing high performance liquid chromatography (DHPLC) used in detection of germline and somatic mutations. Nucleic Acid Res 26: 1396-1400.
12. Nanao K, Okamura-Ikeda K, Motokawa Y, et al (1994) Identification of a mutation in the T-protein gene causing typical and atypical nonketotic hyperglycinemia. Hum Genet 93: 655-658.
13. Sellner L, Edkins E, Greed L, Lewis B (2005) Detection of mutations in the glycine decarboxylase gene in patients with nonketotic hyperglycinaemia. Mol Genet Metab 84: 167-171.
14. Takayanagi M, Kure S, Sakata Y, et al (2000) Human glycine decarboxylase gene (GLDC) and its highly conserved processed pseudogene (ψGLDC): their structure and expression, and the identification of a large deletion in a family with nonketotic hyperglycinemia. Hum Genet 106: 298-305.
15. Toone JR, Applegarth DA, Coulter-Mackie MB, James ER (2000) Biochemical and molecular investigations of patients with nonketotic hyperglycinemia. Mol Genet Metab 70: 116-121.
16. Toone JR, Applegarth DA, Coulter-Mackie MB, James ER (2001) 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 72: 322-325.
17. Toone JR, Applegarth DA, Kure S, et al (2002) Novel mutations in the P-protein (glycine decarboxylase) gene in patients with glycine encephalopathy (nonketotic hyperglycinemia). Mol Genet Metab 76: 243-224.
18. Toone JR, Applegarth DA, Choy F, Coulter-Mackie MB (2003) The Vancouver experience in the diagnosis of glycine encephalopathy (NKH). J Inherit Metab Dis 26 (supplement 2): A140-O.
19. Van Hove JLK, Mathieu V, Schollen E, et al (2003) Prognosis of nonketotic hyperglycinemia. J Inherit Metab Dis 26 (Supplement 2): A141-O.
20. Vianey-Saban C, Chevalier-Porst F, Froissart R, Rolland MO (2003) Prenatal diagnosis of nonketotic hyperglycinemia: A 13-year experience, from enzymatic to molecular analysis. J Inherit Metab Dis 26 (Supplement 2): 164-P.
21. Yoshino M, Koga Y, Yamashita F (1986) A decrease in glycine activity in the liver of a patient with dihydrolipoyl dehydrogenase deficiency J Inherit Metab Dis 9: 399-400.
22. Xiao W, Oefner PJ (2001) Denaturing high-performance liquid chromatography: A review. Hum Mutat 17: 439-474.