Hematologically important mutations: Gaucher disease

Blood Cells, Molecules and Diseases

Volumn 23, Issue 1, 1997, Pages 2-7

  Beutler, Ernest ^a   Gelbart, Terri ^a  

^a SCRIPPS RESEARCH INSTITUTE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ALLELE; DISEASE SEVERITY; GAUCHER DISEASE; GENE MUTATION; HUMAN; JEW; PRIORITY JOURNAL; REVIEW;

EID: 0030858505     PISSN: 10799796     EISSN: None     Source Type: Journal    
DOI: 10.1006/bcmd.1997.0114     Document Type: Article

References (49)

1. Petrides P E. Morbus Gaucher. Diagnose und Therapie. Dtsch Med Wochenschr. 120:1995;1177-1182.
2. Beutler E. The cost of treating Gaucher disease. Nature Med. 2:1996;523-524.
3. Grabowski G A. Current issues in enzyme therapy for Gaucher disease. Drugs. 52:1996;159-167.
4. Beutler E, Grabowski G A. Gaucher disease. The Metabolic and Molecular Bases of Inherited Disease. 1995;McGraw-Hill Publishing Company, New York. p. 2641-.
5. Beutler E. Gaucher disease. Meyers R A. Encyclopedia of Molecular Biology. 1995;341 VCH Publishers, Inc. New York.
6. Grabowski G A, Saal H M, Wenstrup R J, Barton N W. Gaucher disease: A prototype for molecular medicine. Crit Rev Oncol Hematol. 23:1996;25-55.
7. Beutler E. Gaucher disease. Adv Genet. 32:1995;17-49.
8. Balicki D, Beutler E. Gaucher disease. Medicine (Baltimore). 74:1995;305-323.
9. Beutler E, Demina A, Laubscher K. The clinical course of treated and untreated Gaucher disease. A study of 45 patients. Blood Cells Mol Dis. 21:1995;86-108.
10. Elstein D, Zimran A. Recent advances in diagnosis and therapy in Gaucher's disease. Isr J Med Sci. 31:1995;505-509.
11. Beutler E, Gelbart T. Mutation update: Glucocerebrosidase (Gaucher disease). Hum Mutat. 8:1996;207-213.
12. Beutler E, McKusick V A, Motulsky A G, Scriver C R, Hutchinson F. Mutation nomenclature: Nicknames, systematic names, and unique identifiers. Hum Mutat. 8:1996;203-206.
13. Beutler E, Gelbart T, West C. Identification of six new Gaucher disease mutations. Genomics. 15:1993;203-205.
14. Beutler E, Gelbart T, Kuhl 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. 88:1991;10544-10547.
15. Beutler E, Gelbart T, Kuhl W, Zimran A, West C. Mutations in Jewish patients with Gaucher disease. Blood. 79:1992;1662-1666.
16. Kim J-W, Liou B B, Lai M-Y, Ponce E, Grabowski G A. Gaucher disease: Identification of three new mutations in the Korean and Chinese (Taiwanese) populations. Hum Mutat. 7:1996;214-218.
17. Beutler E, Gelbart T, Demina A. Glucocerebrosidase (GBA) mutations in Gaucher disease. Molecular Medicine. 1:1994;82-92.
18. Beutler E, Gelbart T, Demina A, Zimran A, LeCoutre P. Five new Gaucher disease mutations. Blood Cells Mol Dis. 21:1995;20-24.
19. Miller E C, Grace M E, Pastores G M. Identification and expression of rare mutations in acid β-glucosidase causing types 1 and 2 Gaucher disease in non-Jewish patients. Am J Hum Genet. 57:1995;246a.
20. Beutler E, Gelbart T, Balicki D. Gaucher disease: Four families with previously undescribed mutations. Proc Assoc Amer Phys. 108:1996;179-184.
21. Graves P N, Grabowski G A, Eisner R, Palese P, Smith F I. Gaucher disease type 1: Cloning and characterization of a cDNA encoding acid β-glucosidase from an Ashkenazi Jewish patient. DNA. 7:1988;521-528.
22. Eyal N, Firon N, Wilder S, Kolodny E H, Horowitz M. Three unique base pair changes in a family with Gaucher disease. Hum Genet. 87:1991;328-332.
23. Choy F YM, Wei C. Identification of a new mutation (P178S) in an African-American patient with type 2 Gaucher disease. Hum Mutat. 5:1995;345-347.
24. Ida H, Eto Y. Clinical and genetic features of 47 Japanese patients with Gaucher disease. Am J Hum Genet. 59:1996;A201.
25. Kawame H, Eto Y. A new glucocerebrosidase-gene missense mutation responsible for neuronopathic Gaucher disease in Japanese patients. Am J Hum Genet. 49:1991;1378-1380.
26. Beutler E, Gelbart T. Gaucher disease associated with a unique Kpn. Ann Hum Genet. 54:1990;149-153.
27. Walley A J, Ellis I, Harris A. Three unrelated Gaucher's disease patients with three novel point mutations in the glucocerebrosidase gene (P266R, D315H and A318D). Br J Haematol. 91:1995;330-332.
28. He G-S, Grace M E, Grabowski G A. Gaucher disease: Four rare missense mutations encoding F213I, F289Y, T323I and R463C in type I variants. Hum Mutat. 1:1992;423-427.
29. Latham T E, Theophilus B DM, Grabowski G A, Smith F I. Heterogeneity of mutations in the acid β-glucosidase gene of Gaucher disease patients. DNA Cell Biol. 10:1991;15-21.
30. Eyal N, Wilder S, Horowitz M. Prevalent and rare mutations among Gaucher patients. Gene. 96:1990;277-283.
31. Beutler E, Gelbart T. Two new Gaucher disease mutations. Hum Genet. 93:1994;209-210.
32. Kawame H, Hasegawa Y, Eto Y, Maekawa K. Rapid identification of mutations in the glucocerebrosidase gene of Gaucher disease patients by analysis of single-strand conformation polymorphisms. Hum Genet. 90:1992;294-296.
33. A, Demina, E, Beutler, 1997.
34. Tsuji S, Martin B M, Barranger J A, Stubblefield B K, LaMarca M E, Ginns E I. Genetic heterogeneity in type 1 Gaucher disease: Multiple genotypes in Ashkenazic and non-Ashkenazic individuals. Proc Natl Acad Sci USA. 85:1988.
35. Laubscher K H, Glew R H, Lee R E, Okinaka R T. Use of denaturing gradient gel electrophoresis to identify mutant sequences in the β-glucosidase gene. Hum Mutat. 3:1994;411-415.
36. Walley A J, Harris A. A novel point mutation (D380A) and a rare deletion (1255del55) in the glucocerebrosidase gene causing Gaucher's disease. Hum Mol Genet. 2:1993;1737-1738.
37. Theophilus B DM, Latham T, Grabowski G A, Smith F I. Comparison of RNase A, chemical cleavage, and GC-clamped denaturing gradient gel electrophoresis for the detection of mutations in exon 9 of the human acid β-glucosidase gene. Nucleic Acids Res. 17:1989;7707-7722.
38. Amaral O, Pinto E, Fortuna M, Lacerda L, Miranda M CS. Type I Gaucher disease: Identification of N396T and prevalence of glucocerebrosidase mutations in the Portuguese. Hum Mutat. 8:1996;280-281.
39. Seeman P JV, Finckh U, Hoeppner J. Two new missense mutations in a non-Jewish Caucasian family with type 3 Gaucher disease. Neurology. 46:1996;1102-1107.
40. Wigderson M, Firon N, Horowitz Z. Characterization of mutations in Gaucher patients by cDNA cloning. Am J Hum Genet. 44:1989;365-377.
41. Choy F YM, Wei C, Applegarth D A, Yong S-L. A new missense mutation in glucocerebrosidase exon 9 of a non-Jewish Caucasian type 1 Gaucher disease patient. Hum Mol Genet. 3:1994;821-823.
42. Tuteja R, Tuteja N, Lilliu F. Y418C: A novel mutation in exon 9 of the glucocerebrosidase gene of a patient with Gaucher disease creates a new Bgl I site. Hum Genet. 94:1994;314-315.
43. Uchiyama A, Tomatsu S, Kondo N. New Gaucher disease mutations in exon 10: A novel L444R mutation produces a newNci. Hum Mol Genet. 3:1994;1183-1184.
44. Tsuji S, Choudary P V, Martin B M. A mutation in the human glucocerebrosidase gene in neuronopathic Gaucher's disease. N Engl J Med. 316:1987;570-575.
45. Hong C M, Ohashi T, Yu X J, Weiler S, Barranger J A. Sequence of two alleles responsible for Gaucher disease. DNA Cell Biol. 9:1990;233-241.
46. Ohshima T, Sasaki M, Matsuzaka T, Sakuragawa N. A novel splicing abnormality in a Japanese patient withGaucher's disease. Hum Mol Genet. 2:1993;1497-1498.
47. Beutler E, Gelbart T. Erroneous assignment of Gaucher disease genotype as a consequence of a complete gene deletion. Hum Mutat. 4:1995;212-216.
48. Latham T, Grabowski G A, Theophilus B DM, Smith F I. Complex alleles of the acid β-glucosidase gene in Gaucher disease. Am J Hum Genet. 47:1990;79-86.
49. 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. 85:1990;219-222.