Gaucher disease: Complexity in a "simple" disorder

Molecular Genetics and Metabolism

Volumn 83, Issue 1-2, 2004, Pages 6-15

  Sidransky, Ellen ^a  

^a NATIONAL INSTITUTES OF HEALTH   (United States)

Author keywords

Animal models; Gaucher disease; Genotype phenotype correlation; Glucocerebrosidase; Glucosylsphingosine; Mendelian disorder; Modifier; Parkinsonism; Recombination; Risk factor

Indexed keywords

ALPHA SYNUCLEIN; GLUCOSYLCERAMIDASE;

AUTOPSY; CHROMOSOME 1Q; CLINICAL FEATURE; ENVIRONMENTAL FACTOR; ENZYME DEFICIENCY; GAUCHER DISEASE; GENE MUTATION; GENE SEQUENCE; GENOTYPE PHENOTYPE CORRELATION; HEART DISEASE; HETEROZYGOTE; HUMAN; INCIDENCE; LEWY BODY; LIPIDOSIS; MYOCLONUS EPILEPSY; NEUROPATHOLOGY; NONHUMAN; PARKINSONISM; PRIORITY JOURNAL; PSEUDOGENE; RISK FACTOR; SEQUENCE HOMOLOGY; SHORT SURVEY;

ANIMALIA;

EID: 4744343655     PISSN: 10967192     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ymgme.2004.08.015     Document Type: Review

References (76)

1. C.R. Scriver, and P.J. Waters Monogenic traits are not simple: lessons from phenylketonuria Trends Genet. 15 1999 267 272
2. K.M. Dipple, and E.R. McCabe Phenotypes of patients with "simple" Mendelian disorders are complex traits: thresholds, modifiers, and systems dynamics Am. J. Hum. Genet. 66 2000 1729 1735
3. E. Beutler, and G.A. Grabowski Gaucher disease C.R. Scriver A.L. Beaudet D. Valle W.S. Sly The Metabolic and Molecular Bases of Inherited Disease 2001 McGraw-Hill New York 3635 3668
4. E. Sidransky, D.M. Sherer, and E.I. Ginns Gaucher disease in the neonate: a distinct Gaucher phenotype is analogous to a mouse model created by targeted disruption of the glucocerebrosidase gene Pediatr. Res. 32 1992 494 498
5. A. Berrebi, R. Wishnitzer, and U. Von-der-Walde Gaucher†™s disease: unexpected diagnosis in three patients over seventy years old Nouv. Rev. Fr. Hematol. 26 1984 201 203
6. G.A. Grabowski Gaucher disease: considerations in prenatal diagnosis Prenat. Diagn. 20 2000 60 62
7. O. Goker-Alpan, R. Schiffmann, J.K. Park, B.K. Stubblefield, N. Tayebi, and E. Sidransky Phenotypic continuum in neuronopathic Gaucher disease: an intermediate phenotype between type 2 and type 3 J. Pediatr. 143 2003 273 276
8. R.P. Grewal, S.H. Doppelt, M.A. Thompson, D. Katz, R.O. Brady, and N.W. Barton Neurologic complications of nonneuronopathic Gaucher’s disease Arch. Neurol. 48 1991 1271 1272
9. O. Neudorfer, N. Giladi, D. Elstein, A. Abrahamov, T. Turezkite, E. Aghai, A. Reches, B. Bembi, and A. Zimran Occurrence of Parkinson†™s syndrome in type I Gaucher disease QJM 89 1996 691 694
10. B.M. Martin, E. Sidransky, and E.I. Ginns Gaucher’s disease: advances and challenges Adv. Pediatr. 36 1989 277 306
11. M. Horowitz, S. Wilder, Z. Horowitz, O. Reiner, T. Gelbart, and E. Beutler The human glucocerebrosidase gene and pseudogene: structure and evolution Genomics 4 1989 87 96
12. E. Beutler, and T. Gelbart Hematologically important mutations: Gaucher disease Blood Cells Mol. Dis. 24 1998 2 8
13. G.A. Grabowski, and M. Horowitz Gaucher’s disease: molecular, genetic and enzymological aspects Baillieres Clin. Haematol. 10 1997 635 656
14. D.P. Germain, J.P. Puech, C. Caillaud, A. Kahn, and L. Poenaru Exhaustive screening of the acid beta-glucosidase gene by fluorescence-assisted mismatch analysis using universal primers: mutation profile and genotype/phenotype correlations in Gaucher disease Am. J. Hum. Genet. 63 1998 415 427
15. E. Orvisky, J.K. Park, A. Parker, J.M. Walker, B.M. Martin, B.K. Stubblefield, E. Uyama, N. Tayebi, and E. Sidransky The identification of eight novel glucocerebrosidase (GBA) mutations in patients with Gaucher disease Hum. Mutat. 19 2002 458 459
16. M. Montfort, A. Chabas, L. Vilageliu, and D. Grinberg Functional analysis of 13 GBA mutant alleles identified in Gaucher disease patients: pathogenic changes and modifier polymorphisms Hum. Mutat. 23 2004 567 575
17. V. Koprivica, D.L. Stone, J.K. Park, M. Callahan, A. Frisch, I.J. Cohen, N. Tayebi, and E. Sidransky Analysis and classification of 304 mutant alleles in patients with type 1 and type 3 Gaucher disease Am. J. Hum. Genet. 66 2000 1777 1786
18. E. Beutler Gaucher disease: Gaucher disease: new molecular approaches to diagnosis and treatment Science 256 1992 794 799
19. G.A. Grabowski Gaucher disease: gene frequencies and genotype/phenotype correlations Genet. Test 1 1997 5 12
20. E. Sidransky, E. Orvisky, A. Lwin, B.K. Stubblefield, R. Schiffmann, and O. Goker-Alpan Role of genetic modifiers in determining the phenotype in Gaucher disease: a closer look at the genotype L444P/L444P Am. J. Hum. Genet. 73 2003 A451
21. R.H. Lachmann, I.R. Grant, D. Halsall, and T.M. Cox Twin pairs showing discordance of phenotype in adult Gaucher’ disease QJM 97 2004 199 204
22. E. Sidransky, S. Tsuji, B.K. Stubblefield, J. Currie, E.J. FitzGibbon, and E.I. Ginns Gaucher patients with oculomotor abnormalities do not have a unique genotype Clin. Genet. 41 1992 1 5
23. E. Sidransky, S. Tsuji, B.M. Martin, B.K. Stubblefield, and E.I. Ginns DNA mutation analysis of Gaucher patients Am. J. Med. Genet. 42 1992 331 336
24. T.E. Latham, B.D. Theophilus, G.A. Grabowski, and F.I. Smith Heterogeneity of mutations in the acid beta-glucosidase gene of Gaucher disease patients DNA Cell Biol. 10 1991 15 21
25. N. Tayebi, J. Park, V. Madike, and E. Sidransky Gene rearrangement on 1q21 introducing a duplication of the glucocerebrosidase pseudogene and a metaxin fusion gene Hum. Genet. 107 2000 400 403
26. A. Zimran, J. Sorge, E. Gross, M. Kubitz, C. West, and E. Beutler 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
27. N. Tayebi, K. Reissner, E.K. Lau, B.K. Stubblefield, A.C. Klineburgess, B.M. Martin, and E. Sidransky Genotypic heterogeneity and phenotypic variation among patients with type 2 Gaucher’s disease Pediatr. Res. 43 1998 571 578
28. N. Tayebi, B.K. Stubblefield, J.K. Park, E. Orvisky, J.M. Walker, M.E. LaMarca, and E. Sidransky Reciprocal and nonreciprocal recombination at the glucocerebrosidase gene region: implications for complexity in Gaucher disease Am. J. Hum. Genet. 72 2003 519 534
29. N. Tayebi, S. Cushner, and E. Sidransky Differentiation of the glucocerebrosidase gene from pseudogene by long-template PCR: implications for Gaucher disease Am. J. Hum. Genet. 59 1996 740 741
30. E.K. Lau, N. Tayebi, L.J. Ingraham, S.L. Winfield, V. Koprivica, D.L. Stone, A. Zimran, E.I. Ginns, and E. Sidransky Two novel polymorphic sequences in the glucocerebrosidase gene region enhance mutational screening and founder effect studies of patients with Gaucher disease Hum. Genet. 104 1999 293 300
31. V.L.J. Tybulewicz, M.L. Tremblay, M.E. LaMarca, R. Willemsen, B.K. Stubblefield, S. Winfield, B. Zablocka, E. Sidransky, B.M. Martin, S.P. Huang, K.A. Mintzer, H. Westphal, R.C. Mulligan, and E.I. Ginns Animal model of Gaucher’s disease from targeted disruption of the mouse glucocerebrosidase gene Nature 357 1992 407 410
32. D.L. Stone, W.F. Carey, J. Christodoulou, D. Sillence, P. Nelson, M. Callahan, N. Tayebi, and E. Sidransky Type 2 Gaucher disease: the collodion baby phenotype revisited Arch. Dis. Child. Fetal Neonatal. Ed. 82 2000 F163 166
33. D.L. Stone, N. Tayebi, E. Orvisky, B. Stubblefield, V. Madike, and E. Sidransky Glucocerebrosidase gene mutations in patients with type 2 Gaucher disease Hum. Mutat. 15 2000 181 188
34. D.L. Stone, O.P. van Diggelen, J.B. de Klerk, J.L. Gaillard, M.F. Niermeijer, R. Willemsen, N. Tayebi, and E. Sidransky Is the perinatal lethal form of Gaucher disease more common than classic type 2 Gaucher disease? Eur. J. Hum. Genet. 7 1999 505 509
35. W.M. Holleran, E.I. Ginns, G.K. Menon, J.U. Grundmann, M. Fartasch, C.E. McKinney, P.M. Elias, and E. Sidransky Consequences of beta-glucocerebrosidase deficiency in epidermis: ultrastructure and permeability barrier alterations in Gaucher disease J. Clin. Invest. 93 1994 1756 1764
36. O. Nilsson, and L. Svennerholm Accumulation of glucosylceramide and glucosylsphingosine (psychosine) in cerebrum and cerebellum in infantile and juvenile Gaucher disease J. Neurochem. 39 1982 709 718
37. E. Orvisky, E. Sidransky, C.E. McKinney, M.E. LaMarca, R. Samimi, D. Krasnewich, B.M. Martin, and E.I. Ginns Glucosylsphingosine accumulation in mice and patients with type 2 Gaucher disease begins early in gestation Pediatr. Res. 48 2000 233 237
38. E. Orvisky, J.K. Park, M.E. LaMarca, E.I. Ginns, B.M. Martin, N. Tayebi, and E. Sidransky Glucosylsphingosine accumulation in tissues from patients with Gaucher disease: correlation with phenotype and genotype Mol. Genet. Metab. 76 2002 262 270
39. Y.A. Hannun, and R.M. Bell Lysosphingolipids inhibit protein kinase C: implications for the sphingolipidoses Science 235 1987 670 674
40. P. Bornstein, C.E. McKinney, M.E. LaMarca, S. Winfield, T. Shingu, S. Devarayalu, H.L. Vos, and E.I. Ginns Metaxin, a gene contiguous to both thrombospondin 3 and glucocerebrosidase, is required for embryonic development in the mouse: implications for Gaucher disease Proc. Natl. Acad. Sci. USA 92 1995 4547 4551
41. G.L. Long, S. Winfield, K.W. Adolph, E.I. Ginns, and P. Bornstein Structure and organization of the human metaxin gene (MTX) and pseudogene Genomics 33 1996 177 184
42. L.C. Armstrong, T. Komiya, B.E. Bergman, K. Mihara, and P. Bornstein Metaxin is a component of a preprotein import complex in the outer membrane of the mammalian mitochondrion J. Biol. Chem. 272 1997 6510 6518
43. S.L. Winfield, N. Tayebi, B.M. Martin, E.I. Ginns, and E. Sidransky Identification of three additional genes contiguous to the glucocerebrosidase locus on chromosome 1q21: implications for Gaucher disease Genome Res. 7 1997 1020 1026
44. Y. Liu, K. Suzuki, J.D. Reed, A. Grinberg, H. Westphal, A. Hoffmann, T. Doring, K. Sandhoff, and R.L. Proia Mice with type 2 and 3 Gaucher disease point mutations generated by a single insertion mutagenesis procedure Proc. Natl. Acad. Sci. USA 95 1998 2503 2508
45. P.S. Becker, N.N. Khan, M.E. LaMarca, S. Soukharev, C. Chrzanowski, D. Faryna, and E.I. Ginns Gene transfer studies in a novel murine model of Gaucher disease Mol. Ther. 7 2003 1021
46. Y.H. Xu, B. Quinn, D. Witte, and G.A. Grabowski Viable mouse models of acid beta-glucosidase deficiency: the defect in Gaucher disease Am. J. Pathol. 163 2003 2093 2101
47. K.M. Dipple, and E.R. McCabe Modifier genes convert "simple" Mendelian disorders to complex traits Mol. Genet. Metab. 71 2000 43 50
48. J. Vockley, P. Rinaldo, M.J. Bennett, D. Matern, and G.D. Vladutiu Synergistic heterozygosity: disease resulting from multiple partial defects in one or more metabolic pathways Mol. Genet. Metab. 71 2000 10 18
49. J.L. Badano, and N. Katsanis Beyond Mendel: an evolving view of human genetic disease transmission Nat. Rev. Genet. 3 2002 779 789
50. C.R. Scriver Why mutation analysis does not always predict clinical consequences: explanations in the era of genomics J. Pediatr. 140 2002 502 506
51. F. Salvatore, O. Scudiero, and G. Castaldo Genotypeâ€" phenotype correlation in cystic fibrosis: the role of modifier genes Am. J. Med. Genet. 111 2002 88 95
52. E. Sidransky New perspectives in type 2 Gaucher disease Adv. Pediatr. 44 1997 73 107
53. A. Abrahamov, D. Elstein, V. Gross-Tsur, B. Farber, Y. Glaser, I. Hadas-Halpern, S. Ronen, M. Tafakjdi, M. Horowitz, and A. Zimran Gaucher’s disease variant characterised by progressive calcification of heart valves and unique genotype Lancet 346 1995 1000 1003
54. A. Chabas, B. Cormand, D. Grinberg, J.M. Burguera, S. Balcells, J.L. Merino, I. Mate, J.A. Sobrino, R. Gonzalez-Duarte, and L. Vilageliu Unusual expression of Gaucher’s disease: cardiovascular calcifications in three sibs homozygous for the D409H mutation J. Med. Genet. 32 1995 740 742
55. E. Uyama, K. Takahashi, M. Owada, R. Okamura, M. Naito, S. Tsuji, S. Kawasaki, and S. Araki Hydrocephalus, corneal opacities, deafness, valvular heart disease, deformed toes and leptomeningeal fibrous thickening in adult siblings: a new syndrome associated with beta-glucocerebrosidase deficiency and a mosaic population of storage cells Acta Neurol. Scand. 86 1992 407 420
56. J.K. Park, E. Orvisky, N. Tayebi, C. Kaneski, M.E. LaMarca, B.K. Stubblefield, B.M. Martin, R. Schiffmann, and E. Sidransky Myoclonic epilepsy in Gaucher disease: genotypeâ€"phenotype insights from a rare patient subgroup Pediatr. Res. 53 2003 387 395
57. D. Elstein, M.W. Klutstein, A. Lahad, A. Abrahamov, I. Hadas-Halpern, and A. Zimran Echocardiographic assessment of pulmonary hypertension in Gaucher’s disease Lancet 351 1998 1544 1546
58. H. Rosenbaum, and E. Sidransky Cholelithiasis in patients with Gaucher disease Blood Cells Mol. Dis. 28 2002 21 27
59. O. Goker-Alpan, N. Tayebi, P. Kishani, H. Rosenbaum, and E. Sidransky Renal involvement in Gaucher disease: different mechanisms with different outcomes Pediatr. Res. 53 2003 167S
60. N. Tayebi, M. Callahan, V. Madike, B.K. Stubblefield, E. Orvisky, D. Krasnewich, J.J. Fillano, and E. Sidransky Gaucher disease and parkinsonism: a phenotypic and genotypic characterization Mol. Genet. Metab. 73 2001 313 321
61. J.G. Hall A clinician’s plea Nat. Genet. 33 2003 440 442
62. D.L. Stone, N. Tayebi, C. Coble, E.I. Ginns, and E. Sidransky Cardiovascular fibrosis hydrocephalus, ophthalmoplegia and visceral involvement in an American child with Gaucher disease J. Med. Genet. 37 2000 E40
63. N. Tayebi, J. Walker, B.K. Stubblefield, E. Orvisky, M.E. LaMarca, K. Wong, H. Rosenbaum, R. Schiffmann, B. Bembi, and E. Sidransky Gaucher disease with parkinsonian manifestations: does glucocerebrosidase deficiency contribute to a vulnerability to parkinsonism Mol. Genet. Metab. 79 2003 104 109
64. K. Wong, E. Sidransky, A. Verma, T. Mixon, G.D. Sandberg, L.K. Wakefield, A. Morrison, A. Lwin, C. Colegial, and R. Schiffmann Neuropathology provides clues to the pathophysiology of Gaucher disease Mol. Genet. Metab. 82 2004 192 207
65. B. Bembi, S. Zambito Marsala, E. Sidransky, G. Ciana, M. Carrozzi, M. Zorzon, M. Gioulis, M.G. Pittis, and L. Capus Gaucher’s disease and Parkinson’s disease: clinical and pathological aspects Neurology 61 2003 99 101
66. J. Várkonyi, H. Rosenbaum, N. Baumann, J.J. MacKenzie, Z. Simon, J. Aharon-Peretz, J.M. Walker, N. Tayebi, and E. Sidransky Gaucher disease associated with parkinsonism: four further case reports Am. J. Med. Genet. 116A 2003 348 351
67. O. Goker-Alpan, R. Schiffmann, M.E. LaMarca, R.L. Nussbaum, A. McInerney-Leo, E. Sidransky, Parkinsonism among Gaucher disease carriers, J. Med. Genet. (in press)
68. A. Lwin, E. Orvisky, O. Goker-Alpan, M.E. LaMarca, and E. Sidransky Glucocerebrosidase mutations in subjects with parkinsonism Mol. Genet. Metab. 81 2004 70 73
69. R.L. Nussbaum, and C.E. Ellis Alzheimer’s disease and Parkinson’s disease N. Engl. J. Med. 348 2003 1356 1364
70. L.A.J. Kluijtmans, and A.S. Whitehead Methylenetetrahydrofolate reductase genotypes and predisposition to atherothrombotic disease; evidence that all three MTHFR C677T genotypes confer different levels of risk Eur. Heart J. 22 2001 294 299
71. E. Kanavakis, M. Tzetis, T. Antoniadi, G. Pistofidis, S. Milligos, and C. Kattamis Cystic fibrosis mutation screening in CBAVD patients and men with obstructive azoospermia or severe oligozoospermia Mol. Hum. Reprod. 4 1998 333 337
72. P.G. Noone, Z. Zhou, L.M. Silverman, P.S. Jowell, M.R. Knowles, and J.A. Cohn Cystic fibrosis gene mutations and pancreatitis risk: relation to epithelial ion transport and trypsin inhibitor gene mutations Gastroenterology 121 2001 1310 1319
73. R. Mahadeva, W.S. Chang, T.R. Dafforn, D.J. Oakley, R.C. Foreman, J. Calvin, D.G. Wight, and D.A. Lomas Heteropolymerization of S, I, and Z alpha1-antitrypsin and liver cirrhosis J. Clin. Invest. 103 1999 999 1006
74. D. Gaudet, S. Arsenault, L. Perusse, M.C. Vohl, J. St-Pierre, J. Bergeron, J.P. Despres, K. Dewar, M.J. Daly, T. Hudson, and J.D. Rioux Glycerol as a correlate of impaired glucose tolerance: dissection of a complex system by use of a simple genetic trait Am. J. Hum. Genet. 66 2000 1558 1568
75. K.M. Weiss Is there a paradigm shift in genetics? Lessons from the study of human diseases Mol. Phylogenet. Evol. 1 1996 259 265
76. C. Soto Unfolding the role of protein misfolding in neurodegenerative diseases Nat. Rev. Neurosci. 4 2003 49 60