Analysis of the β-glucocerebrosidase gene in Czech and Slovak Gaucher patients: Mutation profile and description of six novel mutant alleles

Blood Cells, Molecules, and Diseases

Volumn 25, Issue 5-6, 1999, Pages 287-298

  Hodaňová, Kateřina ^a   Hřebíček, Martin ^a   Červenková, Markéta ^a   Mrázová, Lenka ^a   Vepřeková, Lenka ^b   Zeman, Jiří ^b  

^a Charles University in Prague and General University Hospital in Prague   (Czech Republic)

^b CHARLES UNIVERSITY   (Czech Republic)

Author keywords

Gaucher disease; Mutations; glucocerebrosidase gene

Indexed keywords

AMINO ACID; GLUCOSYLCERAMIDASE;

ADOLESCENT; ADULT; AMINO ACID SEQUENCE; AMINO ACID SUBSTITUTION; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CHILD; CHROMOSOME ANALYSIS; CLINICAL ARTICLE; CZECH REPUBLIC; ENZYME DEFICIENCY; FEMALE; GAUCHER DISEASE; GENE MUTATION; GENETIC ANALYSIS; GENOTYPE; HUMAN; MALE; PHENOTYPE; PRIORITY JOURNAL;

EID: 0343067070     PISSN: 10799796     EISSN: None     Source Type: Journal    
DOI: 10.1006/bcmd.1999.0256     Document Type: Article

References (39)

1. Beutler E, Grabowski G. Gaucher disease. In: Scriver CR, Beaudet AL, Sly WS, Valle D, eds. The Metabolic and Molecular Bases of Inherited Disease. New York: McGraw-Hill, pp. 2641-2670, 1995.
2. Beutler E, Nguyen NJ, Henneberger MW, et al. Gaucher disease: gene frequencies in the Ashkenazi Jewish population. Am J Hum Genet 52: 85-88, 1993.
3. Erikson A. Gaucher disease-Norrbottnian type (III). Neuropaediatric and neurobiological aspects of clinical patterns and treatment. Acta Paediatr Scand Suppl 326: 1-42, 1986.
4. Horowitz M, Wilder S, Horowitz Z, Reiner O, Gelbart T, Beutler E. The human glucocerebrosidase gene and pseudogene: structure and evolution. Genomics 4: 87-96, 1989.
5. Winfield SL, Tayebi N, Martin BM, Ginns EI, Sidransky E. Identification of three additional genes contiguous to the glucocerebrosidase locus on chromosome 1q21: implications for Gaucher disease. Genome Res 7: 1020-1026, 1997.
6. Horowitz M, Zimran A. Mutations causing Gaucher disease. Hum Mutat 3: 1-11, 1994.
7. Beutler E, Gelbart T. Hematologically important mutations: Gaucher disease. Blood Cells Mol Dis 24: 2-8, 1998.
8. Beutler E, Gelbart T. Erroneous assignment of Gaucher disease genotype as a consequence of a complete gene deletion. Hum Mutat 4: 212-216, 1994.
9. Zimran A, Sorge J, Gross E, Kubitz M, West C, Beutler E. A glucocerebrosidase fusion gene in Gaucher disease. Implications for the molecular anatomy, pathogenesis, and diagnosis of this disorder. J Clin Invest 85: 219-222, 1990.
10. Hatton CE, Cooper A, Whitehouse C, Wraith JE. Mutation analysis in 46 British and Irish patients with Gaucher's disease. Arch Dis Child 77: 17-22, 1997.
11. Grabowski GA, Horowitz M. Gaucher's disease: molecular, genetic and enzymological aspects. In: Zimran A, ed. Gaucher ' s Disease. Baillieres Clin Haematol. London: Bailliere Tindall, pp. 635-656, 1997.
12. Beutler E, Gelbart T, Kühl W, Sorge J, West C. Identification of the second common Jewish Gaucher disease mutation makes possible population-based screening for the heterozygous state. Proc Natl Acad Sci USA 88: 10544-10547, 1991.
13. Ida H, Iwasawa K, Kawame H, Rennert OM, Maekawa K, Eto Y. Characteristics of gene mutations among 32 unrelated Japanese Gaucher patients: absence of the common Jewish 84GG and 1226G mutations. Hum Genet 95:717-720, 1995.
14. Ida H, Rennert OM, Kawame H, Maekawa K, Eto Y. Mutation prevalence among 47 unrelated Japanese patients with Gaucher disease: identification of four novel mutations. J Inherit Metab Dis 20: 67-73, 1997.
15. Tylki-Szymanska A, Millat G, Maire I, Czartoryska B. Types I and III Gaucher disease in Poland: incidence of the most common mutations and phenotypic manifestations. Eur J Hum Genet 4: 334-337, 1996.
16. Beutler E, Gelbart T. Hematologically important mutations: Gaucher disease. Blood Cells Mol Dis 23: 2-7, 1997.
17. Zimran A, Sorge J, Gross E, Kubitz M, West C, Beutler E. Prediction of severity of Gaucher's disease by identification of mutations at DNA level. Lancet 2: 349-352, 1989.
18. Hřebícek M, Zeman J, Musilová J, et al. A case of type I Gaucher disease with cardiopulmonary amyloidosis and chitotriosidase deficiency. Virchows Arch 429: 305-309, 1996.
19. Barnes WM. PCR amplification of up to 35-kb DNA with high fidelity and high yield from lambda bacteriophage templates. Proc Natl Acad Sci USA 91: 2216-2220, 1994.
20. Chomczynski P, Sacchi N. Single-step method of RNA isolation by acid guanidinium thiocyanate- phenol-chloroform extraction. Anal Biochem 162: 156-159, 1987.
21. Sorge J, West C, Westwood B, Beutler E. Molecular cloning and nucleotide sequence of human glucocerebrosidase cDNA. Proc Natl Acad Sci USA 82: 7289-7293, 1985.
22. Latham TE, Theophilus BD, Grabowski GA, Smith FI. Heterogeneity of mutations in the acid beta-glucosidase gene of Gaucher disease patients. DNA Cell Biol 10: 15-21, 1991.
23. Beutler E, Demina A, Gelbart T. Glucocerebrosidase mutations in Gaucher disease. Mol Med 1: 82-92, 1994.
24. Cox TM, Schofield JP. Gaucher's disease: clinical features and natural history. In: Zimran A, ed. Gaucher's Disease, Baillieres Clin Haematol. London: Bailliere Tindall, pp. 657-689, 1997.
25. Santamaria F, Parenti G, Guidi G, et al. Pulmonary manifestations of Gaucher disease: an increased risk for L444P homozygotes? Am J Respir Crit Care Med 157: 985-989, 1998.
26. Demina A, Beutler E. Six new Gaucher disease mutations. Acta Haematol 99: 80-82, 1998.
27. Boot RG, Hollak CE, Verhoek M, et al. Glucocerebrosidase genotype of Gaucher patients in The Netherlands: limitations in prognostic value. Hum Mutat 10: 348-358, 1997.
28. Cormand B, Grinberg D, Gort L, Chabas A, Vilageliu L. Molecular analysis and clinical findings in the Spanish Gaucher disease population: putative haplo-type of the N370S ancestral chromosome. Hum Mutat 11: 295-305, 1998.
29. Le Coutre P, Demina A, Beutler E, Beck M, Petrides PE. Molecular analysis of Gaucher disease: distribution of eight mutations and the complete gene deletion in 27 patients from Germany. Hum Genet 99: 816-821, 1997.
30. Amaral O, Lacerda L, Santos R, Pinto RA, Aerts H, Sa Miranda MC. Type 1 Gaucher disease: molecular, biochemical, and clinical characterization of patients from northern Portugal. Biochem Med Metab Biol 49: 97-107, 1993.
31. Eyal N, Firon N, Wilder S, Kolodny EH, Horowitz M. Three unique base pair changes in a family with Gaucher disease. Hum Genet 87: 328-332, 1991.
32. Grace ME, Ashton-Prolla P, Pastores GM, Soni A, Desnick RJ. Non-pseudogene-derived complex acid beta-glucosidase mutations causing mild type 1 and severe type 2 Gaucher disease. J Clin Invest 103: 817-823, 1999.
33. Elstein D, Itzchaki M, Mankin HJ. Skeletal involvement in Gaucher's disease. In: Zimran A, ed. Gaucher's Disease, Baillieres Clin Haematol. London: Bailliere Tindall, pp. 793-816, 1997.
34. Wada K, Aota S, Tsuchiya R, Ishibashi F, Gojobori T, Ikemura T. Codon usage tabulated from the GenBank genetic sequence data. Nucleic Acids Res 18 Suppl: 2367-2411, 1990.
35. Aerts JM, Van Weely S, Boot R, Hollak CE, Tager JM. Pathogenesis of lysosomal storage disorders as illustrated by Gaucher disease. J Inherit Metab Dis 16: 288-291, 1993.
36. Zimran A, Kay A, Gelbart T, et al. Gaucher disease. Clinical, laboratory, radiologic, and genetic features of 53 patients. Medicine (Baltimore) 71: 337-353, 1992.
37. Grace ME, Desnick RJ, Pastores GM. Identification and expression of acid beta-glucosidase mutations causing severe type 1 and neurologic type 2 Gaucher disease in non- Jewish patients. J Clin Invest 99: 2530-2537, 1997.
38. Hodaňová K, Hřebíček M, Ćervenková M, Aerts JM, Zeman J. Incorrect assignment of N370S mutation status by mismatched PCR/RFLP method in two Gaucher patients. J Inherit Metab Dis 20: 611-612, 1997.
39. Beutler E, Gelbart T, West C. Identification of six new Gaucher disease mutations. Genomics 15: 203-205, 1993.