Mutations in the glucose-6-phosphatase gene of 53 Italian patients with glycogen storage disease type Ia

Journal of Inherited Metabolic Disease

Volumn 22, Issue 1, 1999, Pages 43-49

  Stroppiano, M ^a   Regis, S ^a   DiRocco, M ^b   Caroli, F ^c   Gandullia, P ^d   Gatti, R ^d  

^a Laboratorio Di Diagnosi Pre E Postnatale Di Malattie Metaboliche   (Italy)

^b II Divisione Pediatria   (Italy)

^c Lab Genetica Molecolare   (Italy)

^d G GASLINI INSTITUTE   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

GLUCOSE 6 PHOSPHATASE;

ALLELE; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; DNA SEQUENCE; ENZYMATIC ASSAY; ETHNIC GROUP; GENE MUTATION; GENETIC SCREENING; GLYCOGEN STORAGE DISEASE TYPE 1; HETEROZYGOTE DETECTION; HUMAN; ITALY; LIVER BIOPSY; MAJOR CLINICAL STUDY; METABOLIC DISORDER; MOLECULAR CLONING; PRENATAL DIAGNOSIS; SINGLE STRAND CONFORMATION POLYMORPHISM;

ALLELES; GLUCOSE-6-PHOSPHATASE; GLYCOGEN STORAGE DISEASE TYPE I; HUMANS; ITALY; MUTATION; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL;

EID: 0032990835     PISSN: 01418955     EISSN: None     Source Type: Journal    
DOI: 10.1023/A:1005495131118     Document Type: Article

References (20)

1. Budowle B, Chakraborty R, Giusti AM, et al (1991) Analysis of the VNTR locus DIS80 by PCR followed by high resolution PAGE. Am J Hum Genet 48: 137-144.
2. Chen YT, Burchell A (1995) Glycogen storage disease. In Scriver CR, Beaudet AL, Sly WS, Valle D, eds. The Metabolic and Molecular Bases of Inherited Disease, 7th edn. New York: McGraw-Hill, 935-965.
3. Chevalier-Porst F, Bozon D, Bonardot AM, et al (1996) Mutation analysis in 24 French patients with glycogen storage disease type 1a. J Med Genet 33: 358-360.
4. Hwu WL, Chuang SC, Tsai LP, et al (1995) Glucose-6-phosphatase gene G327A mutation is common in Chinese patients with glycogen storage disease type Ia. Hum Mol Genet 4: 1095-1096.
5. Kajihara S, Matsuhashi S, Yamamoto K, et al (1995) Exon redefinition by a point mutation within exon 5 of the glucose-6-phosphatase gene is the major cause of glycogen storage disease type 1a in Japan. Am J Med Genet 57: 549-555.
6. Keller KM, Schutz M, Med C, et al (1998) A new mutation of the glucose-6-phosphatase gene in a 4-year-old girl with oligosymptomatic glycogen storage disease type 1a. J Pediatr 2: 360-361.
7. Lee W-J, Yang C-H, Ho E S-C, et al (1996a) Prenatal diagnosis in a Chinese family with type 1a glycogen storage disease by PCR-based genetic analysis. Prenat Diagn 16: 1027-1031.
8. Lee W-J, Lee H-M, Chi C-S, et al (1996b) Genetic analysis of the glucose-6-phosphatase mutation of type 1a glycogen storage disease in a Chinese family. Clin Genet 50: 206-211.
9. Lei KJ, Shelly LL, Pan CJ, et al (1993) Mutations in the glucose-6-phosphatase gene that cause glycogen storage disease type 1a. Science 262: 580-583.
10. Lei KJ, Chen YT, Chen H, et al (1995a) Genetic basis of glycogen storage disease type 1a: prevalent mutations at the glucose-6-phosphatase locus. Am J Hum Genet 57: 766-771.
11. Lei KJ, Shelly LL, Lin B, et al (1995b) Mutations in the glucose-6-phosphatase gene are associated with glycogen storage disease types 1a and 1aSP but not 1b and 1c. J Clin Invest 95: 234-240.
12. Okubo M, Aoyama Y, Kishimoto M, et al (1997) Identification of a point mutation (G727T) in the glucose-6-phosphatase gene in Japanese patients with glycogen storage disease type 1a, and carrier screening in healthy volunteers. Clin Genet 51: 179-183.
13. Orita M, Suzuki Y, Sekija T, et al (1989) A rapid and sensitive detection of point mutations and genetic polymorphism using polymerase chain reaction. Genomics 5: 874-879.
14. Pan C-J, Lei K-J, Annabi B, et al (1998) Transmembrane topology of glucose-6-phosphatase. J Biol Chem 11: 6144-6148.
15. Parvari R, Hershkovitz E, Carmi R, et al (1996) Prenatal diagnosis of glycogen storage disease type 1a by single stranded conformation polymorphism (SSCP). Prenat Diagn 16: 862-865.
16. Parvari R, Lei K-J, Bashan N, et al (1997a) Glycogen storage disease type 1a in Israel: biochemical, clinical and mutational studies. Am J Med Genet 72: 286-290.
17. Parvari R, Lei KJ, Szonyi L, et al (1997b) Two new mutations in the glucose-6-phosphatase gene cause glycogen storage disease in Hungarian patients. Eur J Hum Genet 5: 191-195.
18. Qu Y, Abdenur JE, Eng CM, et al (1996) Molecular prenatal diagnosis of glycogen storage disease type 1a. Prenat Diagn 15: 333-336.
19. Stroppiano M, Mazzotti R, Regis S, et al (1998) New mutation (S298P) in a patient with glycogen storage disease type 1a. Hum Mutat Supplement 1: 329.
20. Trioche P, Labrune P, Odièvre M, et al (1998) Novel mutation (G188R) in the G6Pase gene of a patient with glycogen storage disease type 1a. Hum Mutat Supplement 1: 323-324.