High frequency of mutation G377S in Brazilian type 3 Gaucher disease patients

Brazilian Journal of Medical and Biological Research

Volumn 39, Issue 9, 2006, Pages 1171-1179

  Rozenberg, Roberto ^a   Araujo F T ^a   Fox, D C ^a   Aranda, P ^b   Nonino, A ^c   Micheletti, C ^d   Martins, A M ^d   Cravo, R ^e   Sobreira, E ^f   Pereira, L V ^a  

^a UNIVERSITY OF SÃO PAULO   (Brazil)

^b Hospital Evangélico de Londrina   (Brazil)

^c HOSPITAL DE BASE DO DISTRITO FEDERAL   (Brazil)

^d FEDERAL UNIVERSITY OF SÃO PAULO   (Brazil)

^e HEMORIO   (Brazil)

^f FACULDADE DE CIÊNCIAS MÉDICAS DA SANTA CASA DE SÃO PAULO   (Brazil)

Author keywords

Allele dose effect; Gaucher disease; GBA gene

Indexed keywords

ASPARAGINE; GLUTAMIC ACID; GLYCINE; LEUCINE; LYSINE; PROLINE; SERINE;

ARTICLE; BRAZIL; CHROMOSOME ANALYSIS; CONTROLLED STUDY; DISEASE CLASSIFICATION; DISEASE SEVERITY; ENZYME REPLACEMENT; GAUCHER DISEASE; GENE FREQUENCY; GENE SEQUENCE; GENOTYPE PHENOTYPE CORRELATION; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; INDIVIDUALITY; MAJOR CLINICAL STUDY; MUTATIONAL ANALYSIS; PROGNOSIS; PROTEIN ANALYSIS; PSEUDOGENE; SYMPTOMATOLOGY;

EID: 33750020922     PISSN: 0100879X     EISSN: 1414431X     Source Type: Journal    
DOI: 10.1590/S0100-879X2006000900004     Document Type: Article

References (33)

1. Beutler E, Grabowski GA. Gaucher disease. In: Scriver CR, Beaudet AL, Sly WS, Valle DV (Editors), The metabolic and molecular bases of inherited disease. 8th edn. New York: McGraw-Hill; 2001. p 3635-3668.
2. Sorge J, West C, Westwood B, Beutler E. Molecular cloning and nucleotide sequence of human glucocerebrosidase cDNA. Proc Natl Acad Sci U S A 1985; 82: 7289-7293.
3. Beutler E, Gelbart T, Scott CR. Hematologically important mutations: Gaucher disease. Blood Cells Mol Dis 2005; 35: 355-364.
4. Goker-Alpan O, Hruska KS, Orvisky E, Kishnani PS, Stubblefield BK, Schiffmann R, et al. Divergent phenotypes in Gaucher disease implicate the role of modifiers. J Med Genet 2005; 42: e37.
5. Germain DP. Gaucher's disease: a paradigm for interventional genetics. Clin Genet 2004; 65: 77-86.
6. Michelin K, Wajner A, de Souza FT, de Mello AS, Burin MG, Pereira ML, et al. Application of a comprehensive protocol for the identification of Gaucher disease in Brazil. Am J Med Genet A 2005; 136: 58-62.
7. Richards B, Skoletsky J, Shuber AP, Balfour R, Stern RC, Dorkin HL, et al. Multiplex PCR amplification from the CFTR gene using DNA prepared from buccal brushes/swabs. Hum Mol Genet 1993; 2: 159-163.
8. Tayebi N, Stern H, Dymarskaia I, Herman J, Sidransky E. 55-Base pair deletion in certain patients with Gaucher disease complicates screening for common Gaucher alleles. Am J Med Genet 1996; 66: 316-319.
9. Tayebi N, Stubblefield BK, Park JK, Orvisky E, Walker JM, Lamarca ME, et al. Reciprocal and nonreciprocal recombination at the glucocerebrosidase gene region: implications for complexity in Gaucher disease. Am J Hum Genet 2003; 72: 519-534.
10. Beutler E, Nguyen NJ, Henneberger MW, Smolec JM, McPherson RA, West C, et al. Gaucher disease: gene frequencies in the Ashkenazi Jewish population. Am J Hum Genet 1993; 52: 85-88.
11. Lacerda L, Amaral O, Pinto R, Oliveira P, Aerts J, Sa Miranda MC. Gaucher disease: N370S glucocerebrosidase gene frequency in the Portuguese population. Clin Genet 1994; 45: 298-300.
12. Zhao H, Grabowski GA. Gaucher disease: Perspectives on a prototype lysosomal disease. Cell Mol Life Sci 2002; 59: 694-707.
13. Amaral O, Pinto E, Fortuna M, Lacerda L, Sa Miranda MC. Type 1 Gaucher disease: identification of N396T and prevalence of glucocerebrosidase mutations in the Portuguese. Hum Mutat 1996; 8: 280-281.
14. Rozenberg R, Martins AM, Micheletti C, Mustacchi Z, Pereira LV. Tay-Sachs disease in Brazilian patients: prevalence of the IVS7+1g>c mutation. J Inherit Metab Dis 2004; 27: 109-110.
15. Cormand B, Harboe TL, Gort L, Campoy C, Blanco M, Chamoles N, et al. Mutation analysis of Gaucher disease patients from Argentina: high prevalence of the RecNcil mutation. Am J Med Genet 1998; 80: 343-351.
16. Koprivica V, Stone DL, Park JK, Callahan M, Frisch A, Cohen IJ, et al. Analysis and classification of 304 mutant alleles in patients with type 1 and type 3 Gaucher disease. Am J Hum Genet 2000; 66: 1777-1786.
17. Stone DL, Tayebi N, Orvisky E, Stubblefield B, Madike V, Sidransky E. Glucocerebrosidase gene mutations in patients with type 2 Gaucher disease. Hum Mutat 2000; 15: 181-188.
18. Mignot C, Gelot A, Bessieres B, Daffos F, Voyer M, Menez F, et al. Perinatal-lethal Gaucher disease. Am J Med Genet A 2003; 120: 338-344.
19. Montfort M, Chabas A, Vilageliu L, Grinberg D. Functional analysis of 13 GBA mutant alleles identified in Gaucher disease patients: Pathogenic changes and "modifier" polymorphisms. Hum Mutat 2004; 23: 567-575.
20. Chabas A, Gort L, Diaz-Font A, Montfort M, Santamaria R, Cidras M, et al. Perinatal lethal phenotype with generalized ichthyosis in a type 2 Gaucher disease patient with the [L444P;E326K]/P182L genotype: effect of the E326K change in neonatal and classic forms of the disease. Blood Cells Mol Dis 2005; 35: 253-258.
21. Erikson A, Astrom M, Mansson JE. Enzyme infusion therapy of the Norrbottnian (type 3) Gaucher disease. Neuropediatrics 1995; 26: 203-207.
22. Vogler C, Levy B, Grubb JH, Galvin N, Tan Y, Kakkis E, et al. Overcoming the blood-brain barrier with high-dose enzyme replacement therapy in murine mucopolysaccharidosis VII. Proc Natl Acad Sci U S A 2005; 102: 14777-14782.
23. Vellodi A, Bembi B, de Villemeur TB, Collin-Histed T, Erikson A, Mengel E, et al. Management of neuronopathic Gaucher disease: a European consensus. J Inherit Metab Dis 2001; 24: 319-327.
24. Amaral O, Marcao A, Sa MM, Desnick RJ, Grace ME. Gaucher disease: expression and characterization of mild and severe acid beta-glucosidase mutations in Portuguese type 1 patients. Eur J Hum Genet 2000; 8: 95-102.
25. Amaral O, Lacerda L, Marcao A, Pinto E, Tamagnini G, Sa Miranda MC. Homozygosity for two mild glucocerebrosidase mutations of probable Iberian origin. Clin Genet 1999; 56: 100-102.
26. Bembi B, Zambito MS, Sidransky E, Ciana G, Carrozzi M, Zorzon M, et al. Gaucher's disease with Parkinson's disease: clinical and pathological aspects. Neurology 2003; 61: 99-101.
27. Giraldo P, Pocovi M, Perez-Calvo J, Rubio-Felix D, Giralt M. Report of the Spanish Gaucher's disease registry: clinical and genetic characteristics. Haematologica 2000; 85: 792-799.
28. Germain DP, Kaneski CR, Brady RO. Mutation analysis of the acid beta-glucosidase gene in a patient with type 3 Gaucher disease and neutralizing antibody to alglucerase. Mutat Res 2001; 483: 89-94.
29. Park JK, Orvisky E, Tayebi N, Kaneski C, Lamarca ME, Stubblefield BK, et al. Myoclonic epilepsy in Gaucher disease: genotype-phenotype insights from a rare patient subgroup. Pediatr Res 2003; 53: 387-395.
30. Wong K, Sidransky E, Verma A, Mixon T, Sandberg GD, Wakefield LK, et al. Neuropathology provides clues to the pathophysiology of Gaucher disease. Mol Genet Metab 2004; 82: 192-207.
31. Zhao H, Bailey LA, Elsas LJ, Grinzaid KA, Grabowski GA. Gaucher disease: in vivo evidence for allele dose leading to neuronopathic and nonneuronopathic phenotypes. Am J Med Genet A 2003; 116: 52-56.
32. Beutler E, Gelbart T, West C. The facile detection of the nt 1226 mutation of glucocerebrosidase by 'mismatched' PCR. Clin Chim Acta 1990; 194: 161-166.
33. Tsuji S, Choudary PV, Martin BM, Stubblefield BK, Mayor JA, Barranger JA, et al. A mutation in the human glucocerebrosidase gene in neuronopathic Gaucher's disease. N Engl J Med 1987; 316: 570-575.