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

American Journal of Human Genetics

Volumn 63, Issue 2, 1998, Pages 415-427

  Germain, Dominique P ^a,b   Puech, Jean Philippe ^a   Caillaud, Catherine ^a,b   Kahn, Axel ^b   Poenaru, Livia ^a,b  

^a université Paris Cité   (France)

^b INSERM   (France)

Author keywords

[No Author keywords available]

Indexed keywords

GLUCOSYLCERAMIDASE; PRIMER DNA;

ADOLESCENT; ADULT; AGED; AMINO ACID SUBSTITUTION; ARTICLE; BASE MISPAIRING; CHILD; CLINICAL ARTICLE; DISEASE CONTROL; FEMALE; FLUORESCENCE ANALYSIS; GAUCHER DISEASE; GENE MUTATION; GENETIC HETEROGENEITY; GENETIC SCREENING; GENOTYPE; HAPLOTYPE; HUMAN; MALE; NUCLEOTIDE SEQUENCE; PHENOTYPE; PRIORITY JOURNAL; PROGNOSIS;

EID: 0032231639     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/301969     Document Type: Article

References (53)

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, Fortuna AM, Lacerda L, Pinto R, Sa Miranda MC (1994) Molecular characterisation of type 1 Gaucher disease families and patients: intrafamilial heterogeneity at the clinical level. J Med Genet 31:401-404
3. Beutler E, Gelbart T (1993) Gaucher disease mutations in non-Jewish patients. Br J Haematol 85:401-405
4. _ (1996) Glucocerebrosidase (Gaucher disease). Hum Mutat 8:207-213
5. Beutler E, Grabowski GA (1995) Glucosylceramide lipidoses: Gaucher disease. In: Scriver CR, Beaudet AL, Sly WS, Valle D (eds) The metabolic and molecular bases of inherited disease, 7th ed. McGraw-Hill, New York, pp 2641-2670
6. Beutler E, Nguyen NJ, Hennenberger MW, Smolec JM, McPherson RA, West C, Gelbart T (1993) Gaucher disease: gene frequencies in the Ashkenazi Jewish population. Am J Hum Genet 52:85-88
7. Beutler E, West C, Gelbart T (1992) Polymorphisms in the human glucocerebrosidase gene. Genomics 12:795-800
8. Boot RG, Hollak CE, Verhoek M, Sloof P, Poorthuis BJ, Kleijer WJ, Wevers RA, et al (1997) Glucocerebrosidase genotype of Gaucher patients in the Netherlands: limitations in prognostic value. Hum Mutat 10:348-358
9. Brady RO, Barton NW, Grabowski GA (1993) The role of neurogenetics in Gaucher disease. Arch Neurol 50: 1212-1224
10. Choy FY, Humphries ML, Shi H (1997) Identification of two novel and four uncommon missense mutations among Chinese Gaucher disease patients. Am J Med Genet 71:172-178
11. Cormand B, Vilageliu L, Burguera JM, Balcells S, Gonzalez-Duarte R, Grinberg D, Chabas A (1995) Gaucher disease in Spanish patients: analysis of eight mutations. Hum Mutat 5:303-309
12. Cotton RGH (1997) Slowly but surely towards better scanning for mutations. Trends Genet 13:43-46
13. Cotton RGH, Rodriguez NR, Campbell RD (1988) Reactivity of cytosine and thymine in single-base pair mismatched with hydroxylamine and osmium tetroxide and its application to the study of mutations. Proc Natl Acad Sci USA 85: 4397-4401
14. Cuppens H, Lin W, Jaspers M, Costes B, Teng H, Vankerberghen A, Jorissen M, et al (1998) Polyvariant mutant cystic fibrosis transmembrane conductance regulator genes. J Clin Invest 101:487-496
15. Daniels LB, Glew RH (1982) β-Glucosidase assays in the diagnosis of Gaucher's disease. Clin Chem 28:569-577
16. Dianzani I, Forrest SM, Camaschella C, Gottardi E, Cotton RGH (1991) Heterozygotes and homozygotes: discrimination by chemical cleavage of mismatch. Am J Hum Genet 48:423-424
17. Durand P, Lehn P, Callebaut I, Fabrega S, Henrissat B, Mornon JP (1997) Active-site motifs of lysosomal acid hydrolases: invariant features of clan GH-A glycocyl hydrolases deduced from hydrophobic cluster analysis. Glycobiology 7:277-284
18. Ferec C, Audrezet MP, Mercier B, Guillermit H, Mouiller P, Quere I, Verlingue C (1992) Detection of over 98% cystic fibrosis mutations in a Celtic population. Nat Genet 1: 188-191
19. Germain D, Biasotto M, Tosi M, Meo T, Kahn A, Poenaru L (1996) Fluorescence-assisted mismatch analysis for exhaustive screening of the α-galactosidase A gene and detection of carriers in Fabry disease. Hum Genet 98:719-726
20. Grabowski GA, Saal HM, Wenstrup RJ, Barton NW (1996) Gaucher disease: a prototype for molecular medicine. Crit Rev Oncol Hematol 23:25-55
21. Grace ME, Desnick RJ, Pastores GM (1997) Identification and expression of acid β-glucosidase mutations causing severe type 1 and neurologic type 2 Gaucher disease in non-Jewish patients. J Clin Invest 99:2530-2537
22. Griffais R, André PM, Thibon M (1991) K-tuple frequency in the human genome and polymerase chain reaction. Nucleic Acids Res 19:3887-3891
23. Grompe M (1993) The rapid detection of unknown mutations in nucleic acids. Nat Genet 5:111-117
24. +1 IVS2 splice donor site mutation causing exon 2 skipping in the acid β-glucosidase mRNA. Am J Hum Genet 51: 810-820
25. Henrissat B, Callebaut I, Fabrega S, Lehn P, Mornon JP, Davies G (1995) Conserved catalytic machinery and the prediction of a common fold for several families of glycosyl hydrolases. Proc Natl Acad Sci USA 92:7090-7094
26. Horowitz M, Tzuri G, Eyal N, Berebi A, Kolodny EH, Brady RO, Barton NW, et al (1993) Prevalence of nine mutations among Jewish and non-Jewish Gaucher disease patients. Am J Hum Genet 53:921-930
27. Horowitz M, Wilder S, Horowitz Z, Reiner O, Gelbart T, Beutler E (1989) The human glucocerebrosidase gene and pseudogene: structure and evolution. Genomics 4:87-96
28. Ida H, Iwasawa K, Kawame H, Rennert OM, Maekawa K, Eto Y (1995) Characteristics of gene mutations among 32 unrelated Japanese Gaucher disease patients: absence of the common Jewish 84GG and 1226G mutations. Hum Genet 95:717-720
29. Kiesewetter S, Macek M Jr, Davis C, Curristin SM, Chu CS, Graham C, Shrimpton AE, et al (1993) A mutation in CFTR produces different phenotypes depending on chromosomal background. Nat Genet 5:274-278
30. Kwok PY, Carlson C, Yager TD, Ankener W, Nickerson DA (1994) Comparative analysis of human DNA variations by fluorescence-based sequencing of PCR products. Genomics 23:138-144
31. Latham T, Grabowski GA, Theophilus BDM, Smith FI (1990) Complex alleles of the acid β-glucosidase gene in Gaucher disease. Am J Hum Genet 47:79-86
32. Latham TE, Theophilus BDM, Grabowski GA, Smith FI (1991) Heterogeneity of mutations in the acid β-glucosidase gene in Gaucher disease patients. DNA Cell Biol 10:15-21
33. Le Coutre P, Demina A, Beutler E, Beck M, Petrides P (1997) Molecular analysis of Gaucher disease: distribution of eight mutations and the complete gene deletion in 27 patients from Germany. Hum Genet 99:816-821
34. Miao S, McCarter JD, Grace ME, Grabowski GA, Aebersold R, Withers SG (1994) Identification of Glu340 as the active-site nucleophile in human glucocerebrosidase by use of electrospray tandem mass spectrometry. J Biol Chem 269: 10975-10978
35. Moran D, Galperin E, Horowitz M (1997) Identification of factors regulating the expression of the human glucocerebrosidase gene. Gene 194:201-213
36. NIH Technology Assessment Panel on Gaucher Disease (1996) Gaucher disease: current issues in diagnosis and treatment. JAMA 275:548-553
37. O'Neill RR, Tokoro T, Kozak CA, Brady RO (1989) Comparison of the chromosomal localization of murine and human glucocerebrosidase genes and of the deduced amino acid sequences. Proc Natl Acad Sci USA 86:5049-5053
38. Pasmanik-Chor M, Madar-Shapiro L, Stein OE, Aerts H, Gatt S, Horowitz M (1997) Expression of mutated glucocerebrosidase alleles in human cells. Hum Mol Genet 6:887-895
39. Phelps RS, Chadwick RB, Conrad MP, Kronick MN, Kamb A (1995) Efficient, automatic detection of heterozygous bases during large-scale DNA sequence screening. Biotechniques 19:984-989
40. Rowley G, Saad S, Gianelli F, Green PM (1995) Ultrarapid mutation detection by multiplex, solid-phase chemical cleavage. Genomics 30:574-582
41. Rozmahel R, Wilschanski M, Matin A, Plyte S, Oliver M, Auerbach W, Moore A, et al (1996) Modulation of disease severity in cystic fibrosis transmembrane conductance regulator deficient mice by a secondary genetic factor. Nat Genet 12:280-287
42. Rutland P, Pulleyn LJ, Reardon W, Baraitser M, Hayward R, Jones B, Malcolm S, et al (1995) Identical mutations in the FGFR2 gene cause both Pfeiffer and Crouzon syndrome phenotypes. Nat Genet 9:173-176
43. Savov A, Angelicheva D, Balassopoulou A, Jordanova A, Noussia-Arvanitakis S, Kalaydjieva L (1995) Double mutant alleles: are they rare? Hum Mol Genet 4:1169-1171
44. Serjeant GR (1997) Sickle cell disease. Lancet 350:725-730
45. Sibille A, Eng CM, Kim S-J, Pastores G, Grabowski GA (1993) Phenotype/genotype correlations in Gaucher disease type I: clinical and therapeutic implications. Am J Hum Genet 52: 1094-1101
46. Sidransky E, Ginns E (1993) Clinical heterogeneity among patients with Gaucher's disease. JAMA 269:1154-1157
47. Sorje J, West C, Westwood B, Beutler E (1985) Molecular cloning and nucleotide sequence of human glucocerebrosidase gene. Proc Natl Acad Sci USA 82:7289-7293
48. Tayebi N, Cushner S, Sidransky E (1996) Differentiation of the glucocerebrosidase gene from pseudogene by long-template PCR: implications for Gaucher disease. Am J Hum Genet 59:740-741
49. Verpy E, Biasotto M, Brai M, Misiano G, Meo T, Tosi M (1996) Exhaustive mutation scanning by fluorescence-assisted mismatch analysis discloses new genotype-phenotype correlations in angioedema. Am J Hum Genet 59:308-319
50. Verpy E, Biasotto M, Meo T, Tosi M (1994) Efficient detection of point mutations on color-coded strands of target DNA. Proc Natl Acad Sci USA 91:1873-1877
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. Wolf U (1997) Identical mutations and phenotypic variation. Hum Genet 100:305-321
53. Zimran A, Elstein D, Abrahamov A, Kuhl W, Brown KH, Beutler E (1995) Prenatal molecular diagnosis of Gaucher disease. Prenat Diagn 15:1185-1188