Analysis and classification of 304 mutant alleles in patients with type 1 anti type 3 gaucher disease

American Journal of Human Genetics

Volumn 66, Issue 6, 2000, Pages 1777-1786

  Koprivica, Vuk ^a   Stone, Deborah L ^a   Park, Joseph K ^a   Callahan, Megan ^a   Frisch, Amos ^b   Cohen, Ian J ^c   Tayebi, Nahid ^a   Sidransky, Ellen ^a  

^a NATIONAL INSTITUTE OF MENTAL HEALTH   (United States)

^b RABIN MEDICAL CENTER   (Israel)

^c TEL AVIV UNIVERSITY   (Israel)

Author keywords

[No Author keywords available]

Indexed keywords

GLUCOSYLCERAMIDASE;

ALLELE; ARTICLE; DISEASE CLASSIFICATION; GAUCHER DISEASE; GENETIC ANALYSIS; GENOTYPE; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; NUCLEOTIDE SEQUENCE; PHENOTYPE; PREVALENCE; PRIORITY JOURNAL; PROGNOSIS;

EID: 0033911997     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/302925     Document Type: Article

References (52)

1. Abrahamov A, Elstein D, Gross-Tsur V, Farber B, Glaser Y, Hadas-Halpern I, Ronen S, et al (1995) Gaucher's disease variant characterised by progressive calcification of heart valves and unique genotype. Lancet 346:1000-1003
2. Amaral O, Lacerda L, Marcao A, Pinto E, Tamagnini G, Miranda MCS (1999) Homozygosity for two mild glucocerebrosidase mutations of probable Iberian origin. Clin Genet 56:100-102
3. Amaral O, Lacerda L, Santos R, Pinto A, Aerts H, Miranda MCS (1993) Type 1 Gaucher disease: Molecular, biochemical, and clinical characterization of patients from northern Portugal. Biochem Med Metab Biol 49:97-107
4. Azuri J, Elstein D, Lahad A, Abrahamov A, Hadas-Halpern I, Zimran A (1998) Asymptomatic Gaucher disease: implications for large-scale screening. Genetic Testing 2:297-299
5. Beutler E, Gelbart T (1993) Gaucher disease mutations in non-Jewish patients. Br J Haematol 85:401-405
6. -(1998) Hematologically important mutations: Gaucher disease. Blood Cells Mol Dis 24:2-8
7. Beutler E, Gelbart T, Kuhl W, Zimran A, West C (1992) Mutations in Jewish patients with Gaucher disease. Blood 79: 1662-1666
8. Choy FYM, Wei C, Levin D (1996) Gaucher disease: Functional expression of the normal glucocerebrosidase and Gaucher T1366G and G1604A alleles in baculovirus-transfected Spodoptera frugiperda cells. Am J Med Genet 65: 184-189
9. Choy FYM, Wong K, Shi HP (1999) Glucocerebrosidase mutations among Chinese neuronopathic and non-neuronopathic Gaucher disease patients. Am J Med Genet 84:484-486
10. Cox TM, Schofield JP (1997) Gaucher disease: clinical features and natural history. Baillieres Clin Haematol 10:657-689
11. Dahl N, Lagerstrom M, Erikson A, Pettersson U (1990) Gaucher disease type III (Norrbottnian type) is caused by a single mutation in exon 10 of the glucocerebrosidase gene. Am J Hum Genet 47:275-278
12. Diaz A, Montfort M, Cormand B, Zeng BJ, Pastores GM, Chabas A, Vilageliu L, et al (1999) Gaucher disease: The N370S mutation in Ashkenazi Jewish and Spanish patients has a common origin and arose several thousand years ago. Am J Hum Genet 64:1233-1238
13. Diaz GA, Risch N, Nygaard T, Maire I, Poenaru L, Caillaud C, Miranda MCS, et al (1998) Gaucher disease: the Ashkenazi Jewish N370S mutation occurred on an ancient European haplotype. Am J Hum Genet Suppl 63:A211
14. Erikson A (1986) Gaucher disease - Norrbottnian type (III). Neuropaediatric and neurobiological aspects of clinical patterns and treatment. Acta Paediatr Scand Suppl 326:1-42
15. Estivill X (1996) Complexity in a monogenic disease. Nat Genet 12:348-350
16. Eto Y, Ida H (1999) Clinical and molecular characteristics of Japanese Gaucher disease. Neurochem Res 24:207-211
17. Germain DP, Puech J-P, Caillaud C, Kahn A, Poenaru L (1998) Exhaustive screening of the acid β-glucosidase gene by fluorescence-assisted mismatch analysis using universal primers: Mutation profile and genotype/phenotype correlations in Gaucher disease. Am J Hum Genet 63:415-427
18. Grabowski GA (1997) Gaucher disease: Gene frequencies and genotype/phenotype correlations. Genet Test 1:5-12
19. -(2000) Gaucher disease: Considerations in prenatal diagnosis. Prenat Diagn 20:60-62
20. Grabowski GA, Horowitz M (1997) Gaucher's disease: molecular, genetic, and enzymological aspects. Baillieres Clin Haematol 10:635-656
21. Grace ME, Ashton-Prolla P, Pastures GM, Soni A, Desnick RJ (1999) Non-pseudogene-derived complex acid β-glucosidase mutations causing mild type 1 and severe type 2 Gaucher disease. J Clin Invest 103:817-823
22. Grace ME, Desnick RJ, Pastores GM (1997) Identification and expression of acid β-glucosidase mutations causing severe type 1 and neurologic type 2 Gaucher's disease in non-Jewish patients. J Clin Invest 99:2530-2537
23. Gurakan F, Terzioglu M, Kocak N, Yuce A, Ozen H, Ciliv G, Emre S (1999) Analysis of three mutations in Turkish children with Gaucher disease. J Inher Metab Dis 22:947-948
24. Hatten CE, Cooper A, Whitehouse C, Wraith JE (1997) Mutation analysis in 46 British and Irish patients with Gaucher's disease. Arch Dis Child 77:17-22
25. Hodanova K, Hrebicek M, Cervenkova M, Mrazova L, Veptrekova L, Zeman J (1999) Analysis of the β-glucocerebrosidase gene in Czech and Slovak Gaucher patients: Mutation profile and description of six novel mutant alleles. Blood Cells Mol Dis 25:287-298
26. Horowitz M, Wildre S, Horowitz Z, Reiner O, Gelbart T, Beutler E (1989) The human glucocerebrosidase gene and pseudogene: Structure and evolution. Genomics 4:87-96
27. Ida H, Rennert OM, Iwasawa K, Kobayashi M, Eto Y (1999) Clinical and genetic studies of Japanese homozygotes for the Gaucher disease L444P mutation. Hum Genet 105:120-126
28. Kawame H, Maekawa K, Eto Y (1993) Molecular screening of Japanese patients with Gaucher disease: phenotypic variability in the same genotypes. Hum Mutat 2:362-367
29. Kim J-W, Liou BB, Lai M-Y, Ponce E, Grabowski GA (1996) Gaucher disease: Identification of three new mutations in the Korean and Chinese (Taiwanese) populations. Hum Mutat 7:214-218
30. Lau EK, Tayebi E, Ingraham LJ, Winfield SL, Koprivica V, Stone DL, Zimran A, et al (1999) Two novel polymorphic sequences in the glucocerebrosidase gene region enhance mutational screening and founder effect studies of patients with Gaucher disease. Hum Genet 104:293-300
31. Laubscher KH, Glew RH, Lee RE, Okinaka RT (1994) Use of denaturing gradient gel electrophoresis to identify mutant sequences in the beta-glucocerebrosidase gene. Hum Mutat 3:411-415
32. Mistry PK, Smith SJ, Ali M, Hatton CS, McIntyre N, Cox TM (1992) Genetic diagnosis of Gaucher's disease. Lancet 339: 889-892
33. Morimoto S, Yamamoto Y, O'Brien JS, Kishimoto Y (1990) Distribution of saposin proteins (sphingolipid activator proteins) in lysosomal storage and other disease. Proc Natl Acad Sci USA 87:3493-3497
34. Nilsson O, Svennerholm L (1982) Accumulation of glucosylceramide and glucosylsphingosine (psychosine) in cerebrum and cerebellum in infantile and juvenile Gaucher disease. J Neurochem 39:709-718
35. Ohashi T, Hong CM, Weiler S, Tomich JM, Aerts JMFG, Tage JM, Barranger JA (1991) Characterization of human glucocerebrosidase from different mutant alleles. J Biol Chem 266:3661-3667
36. Orvisky E, Ginns EI, Sidransky E (1999) Glucosylsphingosine accumulation in patients with Gaucher disease. Am J Hum Genet Suppl 65:A427
37. Pampols T, Pineda M, Giros ML, Ferrer I, Cusi V, Chabas A, Sanmarti FX, Vanier MT, Christomanou H (1999) Neuronopathic juvenile glucosylceramidosis due to sap-C deficiency: clinical course, neuropathology and brain lipid composition in this Gaucher disease variant. Acta Neuropathol 97:91-97
38. Pasmanik-Chor M, Madar-Shapiro L, Stein OE, Aerts H, Gatt S, Horowirz M (1997) Expression of mutated glucocerebrosidase alleles in human cells. Hum Mol Genet 6:887-895
39. Perlmutter DH (1998) Alpha-1-antitrypsin deficiency. Seminars in liver disease 18:217-225
40. Scriver CR, Waters PJ (1999) Monogenic traits are not simple. Trends Genet 15:267-272
41. Sidransky E, Bottler A, Stubblefield B, Ginns EI (1994) DNA mutational analysis of type 1 and type 3 Gaucher patients: How well do mutations predict phenotype? Hum Mutat 3: 25-28
42. Stone DL, Tayebi N, Coble C, Ginns EI, Sidransky E. Car-diovascular fibrosis, hydrocephalus, opthalmoplegia, and visceral involvement in an American child with Gaucher disease. J Med Genet (in press)
43. Stone DL, Tayebi N, Orvisky E, Stubblefield B, Madike V, Sidransky E (2000) Glucocerebrosidase gene mutations in patients with type 2 Gaucher disease. Hum Mutat 15: 181-188
44. Tayebi N, Cushner S, Sidransky E (1996b) Differentiation of the glucocerebrosidase gene from pseudogene by long-template PCR: Implications for Gaucher disease. Am J Hum Genet 59:740-741
45. Tayebi N, Reissner K, Lau EK, Stubblefield BK, Sidransky E (1998) Genotypic heterogeneity and phenotypic variation among patients with type 2 Gaucher disease. Pediatr Res 43:571-578
46. Tayebi N, Stern H, Dymarskaia I, Herman J, Sidransky E (1996a) 55-base pair deletion in certain patients with Gaucher disease complicates screening for common Gaucher alleles. Am J Med Genet 66:316-319
47. Tayebi N, Stone DL, Sidransky E (1999a) Type 2 Gaucher disease: an expanding phenotype. Mol Genet Metab 68: 209-219
48. Tayebi N, Stubblefield B, Stone D, Callahan M, Madike V, Sidransky E (1999b) Homologous and non-homologous recombinations at the glucocerebrosidase locus: Implications for Gaucher disease. Am J Hum Genet Suppl 65:A493
49. Timms KM, Bondeson L, Ansari-Lari MA, Lagerstedt K, Muzny DM, Dugan-Rocha SP, Nelson DL, Pettersson U, Gibbs RA (1997) Molecular and phenotypic variation in patients with severe Hunter syndrome. Hum Mol Genet 6: 479-486
50. Uyama E, Uchino M, Ida H, Eto Y, Owada M (1997) D409H/ D409H genotype in Gaucher-like disease. J Med Genet 34: 175
51. Winfield SL, Tayebi N, Martin BM, Ginns EI, Sidransky E (1997) Identification of three additional genes contiguous to the glucocerebrosidase locus on chromosome 1q21: implications for Gaucher disease. Genome Res 7:1020-1026
52. Zimmer KP, LeCoutre P, Aerts HMFG, Harzer K, Fukuda M, O'Brien JS, Naim HY (1999) Intracellular transport of acid beta-glucosidase and lysosome-associated membrane proteins is affected in Gaucher's disease (G202R mutation). J Pathol 188:407-414