Mapping the genetic and clinical characteristics of Gaucher disease in the Iberian Peninsula

Orphanet Journal of Rare Diseases

Volumn 7, Issue 1, 2012, Pages

  Giraldo, Pilar ^a,b,c,h   Alfonso, Pilar ^a,b   Irún, Pilar ^a,b   Gort, Laura ^a,c   Chabás, Amparo ^a,c   Vilageliu, Llusa ^a,d   Grinberg, Daniel ^a,d   Sá Miranda, Clara M ^e   Pocovi, Miguel ^a,b,f,g  

^a CENTRO DE INVESTIGACIÓN BIOMÉDICA EN RED DE ENFERMEDADES RARAS CIBERER   (Spain)

^b INSTITUTO DE INVESTIGACIÓN SANITARIA ARAGÓN IIS ARAGÓN   (Spain)

^c Spanish Gaucher Disease Foundation ^*  (Spain)

^d HOSPITAL CLÍNIC   (Spain)

^e UNIVERSITY OF BARCELONA   (Spain)

^f UNIVERSITY OF PORTO   (Portugal)

^g UNIVERSITY OF ZARAGOZA   (Spain)

^h So Hematología Hospital   (Spain)

Author keywords

Gaucher disease; Genotyping; Glucocerebrosidase; Iberian Peninsula; Phenotype

Indexed keywords

GLUCOSYLCERAMIDASE; MIGLUSTAT;

ADULT; AGED; ALLELE; ANEMIA; ARTICLE; BONE DISEASE; BRAZIL; CUBA; ECUADOR; ENZYME REPLACEMENT; FEMALE; FRANCE; GAUCHER DISEASE; GENE MAPPING; GENE MUTATION; GEOGRAPHIC DISTRIBUTION; GERMANY; GUINEA; HEPATOMEGALY; HUMAN; INDIA; MAJOR CLINICAL STUDY; MALE; MOROCCO; PHENOTYPE; PORTUGAL; PREVALENCE; ROMANIA; SYRIAN ARAB REPUBLIC; THROMBOCYTOPENIA; TREATMENT DURATION; TURKEY (REPUBLIC); UNITED KINGDOM; URUGUAY; ADOLESCENT; CHILD; GENETICS; INFANT; MIDDLE AGED; NEWBORN; PATHOLOGY; PRESCHOOL CHILD; SPAIN;

ADOLESCENT; ADULT; AGED; AGED, 80 AND OVER; CHILD; CHILD, PRESCHOOL; FEMALE; GAUCHER DISEASE; HUMANS; INFANT; INFANT, NEWBORN; MALE; MIDDLE AGED; PREVALENCE; SPAIN; YOUNG ADULT;

EID: 84858317543     PISSN: None     EISSN: 17501172     Source Type: Journal    
DOI: 10.1186/1750-1172-7-17     Document Type: Article

References (38)

1. Gaucher disease. Beutler E, Grabowski GA, The Metabolic and Molecular Bases of Inherited Diseases New York: McGraw-Hill, Scriver CR, Beaudet AL, Sly WS, Valle D, 2001 3635 3668
2. Characterization of neuronopathic Gaucher disease among ethnic Poles. Tylki-Szymanska A, Keddache M, Grabowski GA, Genet Med 2006 8 8 15 10.1097/01.gim.0000196443.42899.25 16418594
3. Gaucher disease among Chinese patients: review on genotype/phenotype correlation from 29 patients and identification of novel and rare alleles. Choy FY, Zhang W, Shi HP, Zay A, Campbell T, Tang N, Ferreira P, Blood Cells Mol Dis 2007 38 287 293 10.1016/j.bcmd.2006.11.003 17196853 (Pubitemid 46533937)
4. The human glucocerebrosidase gene and pseudogene: structure and evolution. Horowitz M, Wilder S, Horowitz Z, Reiner O, Gelbart T, Beutler E, Genomics 1989 4 87 96 10.1016/0888-7543(89)90319-4 2914709
5. Neurological manifestations in patients with Gaucher disease and their relatives, it is just a coincidence? Giraldo P, Capablo JL, Alfonso P, Garcia-Rodriguez B, Latre P, Irun P, de Cabezon AS, Pocovi M, J Inherit Metab Dis 2011 34 781 787 10.1007/s10545-011-9298-4 21384230
6. Gaucher's disease: molecular, genetic and enzymological aspects. Grabowski GA, Horowitz M, Gaucher's disease London: Baillieres Clin Haematol Bailliere Tindall, Zimran A, 1997 635 656 22493294 (Pubitemid 28022201)
7. Glucocerebrosidase (Gaucher disease). Beutler E, Gelbart T, Hum Mutat 1996 8 207 213 10.1002/(SICI)1098-1004(1996)8:3<207::AID-HUMU2>3.0.CO;2-6 8889578 (Pubitemid 26328003)
8. Hematologically important mutations: Gaucher disease. Beutler E, Gelbart T, Scott CR, Blood Cells Mol Dis 2005 35 355 364 10.1016/j.bcmd.2005.07.005 16185900 (Pubitemid 41627801)
9. Mutation prevalence among 47 unrelated Japanese patients with Gaucher disease: identification of four novel mutations. Ida H, Rennert OM, Kawame H, Maekawa K, Eto Y, J Inherit Metab Dis 1997 20 67 73 10.1023/A:1005313724361 9061570 (Pubitemid 27092332)
10. Iberia: population genetics, anthropology, and linguistics. Arnaiz-Villena A, Martínez-Laso J, Alonso-García J, Hum Biol 1999 71 725 743 10510567 (Pubitemid 29463938)
11. Genetic diversity in the Iberian Peninsula determined from mitochondrial sequence analysis. Côrte-Real HB, Macaulay VA, Richards MB, Hariti G, Issad MS, Cambon-Thomsen A, Papiha S, Bertranpetit J, Sykes BC, Ann Hum Genet 1996 60 331 350 10.1111/j.1469-1809.1996.tb01196.x 8865993 (Pubitemid 26283449)
12. Gaucher disease in Spanish patients: analysis of eight mutations. Cormand B, Vilageliu L, Burguera JM, Balcells S, Gonzlez-Duarte R, Grinberg D, Chabas A, Hum Mutat 1995 5 303 309 10.1002/humu.1380050406 7627184
13. Molecular analysis and clinical findings in the Spanish Gaucher Disease population: putative haplotype of the N370S ancestral chromosome. Cormand B, Grinberg D, Gort L, Chabás A, Vilageliu L, Hum Mutat 1998 11 295 305 9554746 (Pubitemid 28177871)
14. Type 1 Gaucher disease: molecular, biochemical, and clinical characterization of patients from northern Portugal. Amaral O, Lacerda L, Santos R, Pinto RA, Aerts H, Sá Miranda MC, Biochem Med Metab Biol 1993 49 97 107 10.1006/bmmb.1993.1011 8439454 (Pubitemid 23197771)
15. Mutation analysis and genotype/phenotype relationships of Gaucher disease patients in Spain. Alfonso P, Aznarez S, Giralt M, Pocoví M, Giraldo P, J Hum Genet 2007 52 391 396 10.1007/s10038-007-0135-4 17427031 (Pubitemid 46669310)
16. Report of the Spanish Gaucher's disease registry: clinical and genetic characteristics. Giraldo P, Pocoví M, Pérez-Calvo JI, Rubio-Félix D, Giralt M, Haematologica 2000 85 792 79 10942924
17. Gaucher's disease. Clinical, laboratory, radiologic, and genetic features of 53 patients. Zimran A, Kay A, Gelbart T, Garver P, Thurston D, Saven A, Beutler E, Medicine (Baltimore) 1992 71 337 353 10.1097/00005792-199211000-00002
18. S-MRI score: A simple method for assessing bone marrow involvement in Gaucher disease. Roca M, Mota J, Alfonso P, Pocoví M, Giraldo P, Eur J Radiol 2007 62 132 137 10.1016/j.ejrad.2006.11.024 17161930 (Pubitemid 46413626)
19. Leukocyte beta-glucosidase in homozygotes and heterozygotes for Gaucher disease. Raghavan SS, Topol J, Kolodny EH, Am J Hum Genet 1980 32 158 173 6770675 (Pubitemid 10105547)
20. Clinical and molecular characteristics of Japanese Gaucher disease. Eto Y, Ida H, Neurochem Res 1999 24 207 211 10.1023/A:1022553819241 9972866 (Pubitemid 29067961)
21. Phenotypic and genotypic heterogeneity in Gaucher disease type 1: a comparison between Brazil and the rest of the world. Sobreira E, Pires RF, Cizmarik M, Grabowski GA, Mol Genet Metab 2007 90 81 86 10.1016/j.ymgme.2006.08. 009 16996765 (Pubitemid 44856291)
22. Gaucher's disease: clinical features and natural history. Cox TM, Schofield JP, Baillieres Clin Haematol 1997 10 657 689 10.1016/S0950-3536(97) 80033-9 9497857 (Pubitemid 28022202)
23. Gaucher disease: N370S glucocerebrosidase gene frequency in the Portuguese population. Lacerda L, Amaral O, Pinto R, Oliveira P, Aerts J, Sá Miranda MC, Clin Genet 1994 45 298 300 7923859 (Pubitemid 24195301)
24. Prevalence of glucocerebrosidase mutations in the Israeli Ashkenazi Jewish Population. Horowitz M, Pasmanik-Chor M, Borochowitz Z, Falik-Zaccai T, Heldmann K, Carmi R, Parvari R, Beit-Or H, Goldman B, Peleg L, Levy-Lahad E, Renbaum P, Legum S, Shomrat R, Yeger H, Benbenisti D, Navon R, Dror V, Shohat M, Magal N, Navot N, Eyal N, Hum Mutat 1998 12 240 244 10.1002/(SICI)1098- 1004(1998)12:4<240::AID-HUMU4>3.0.CO;2-J 9744474 (Pubitemid 28418893)
25. Gaucher disease: frequency of the N370S mutation in the Greek population. Dimitriou E, Moraitou M, Troungos C, Schulpis K, Michelakakis H, Clin Genet 2010 78 195 196 10.1111/j.1399-0004.2010.01381.x 20662857
26. The Gaucher registry: demographics and disease characteristics of 1698 patients with Gaucher disease. Charrow J, Andersson HC, Kaplan P, Kolodny EH, Mistry P, Pastores G, Rosenbloom BE, Scott CR, Wappner RS, Weinreb NJ, Zimran A, Arch Intern Med 2000 160 2835 2843 10.1001/archinte.160.18.2835 11025794
27. Therapeutic goals in the treatment of Gaucher disease. Pastores GM, Weinreb NJ, Aerts H, Andria G, Cox TM, Giralt M, Grabowski GA, Mistry PK, Tylki-Szymaska A, Semin Hematol 2004 41 4 Suppl 5 4 14 15468045 (Pubitemid 39311677)
28. Gaucher disease type 1: revised recommendations on evaluations and monitoring for adult patients. Weinreb NJ, Aggio MC, Andersson HC, Andria G, Charrow J, Clarke JT, Erikson A, Giraldo P, Goldblatt J, Hollak C, Ida H, Kaplan P, Kolodny EH, Mistry P, Pastores GM, Pires R, Prakash-Cheng A, Rosenbloom BE, Scott CR, Sobreira E, Tylki-Szymaska A, Vellodi A, vom Dahl S, Wappner RS, Zimran A, Semin Hematology 2004 41 4 Suppl 5 15 22 (Pubitemid 39311678)
29. Survey of hematological aspects of Gaucher disease. Zimran A, Hematology 2005 10 151 156 16188659 (Pubitemid 41800790)
30. Multiple myeloma arising from monoclonal gammopathy of undetermined significance in a patient with Gaucher's disease. Brady K, Corash L, Bhargava V, Arch Pathol Lab Med 1997 121 1108 1111 9341594 (Pubitemid 28212599)
31. Polyclonal B-cell lymphocytosis and hypergammaglobulinemia in patients with Gaucher disease. Marti GE, Ryan ET, Papadopoulos NM, Filling-Katz M, Barton N, Fleischer TA, Rick M, Gralnick HR, Am J Hematol 1988 29 189 194 10.1002/ajh.2830290403 3263798 (Pubitemid 19004117)
32. Gaucher's disease: a disease with chronic stimulation of the immune system. Shoenfeld Y, Gallant LA, Shaklai M, Livni E, Djaldetti M, Pinkhas J, Arch Pathol Lab Med 1982 106 388 391 7049116
33. Interaction between a serum factor and T-lymphocytes in Gaucher disease. Bassan R, Montanelli A, Barbui T, Am J Hematol 1985 18 381 384 10.1002/ajh.2830180407 3872064 (Pubitemid 15076446)
34. 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. Chabás A, Gort L, Diaz-Font A, Montfort M, Santamaría R, Cidrás M, Grinberg D, Vilageliu L, Blood Cells Mol Dis 2005 35 253 258 10.1016/j.bcmd.2005.04.007 15967693 (Pubitemid 41267057)
35. Characterization of the c. (-203)A > G variant in the glucocerebrosidase gene and its association with phenotype in Gaucher disease. Alfonso P, Pampín S, García-Rodríguez B, Tejedor T, Domínguez C, Rodríguez-Rey JC, Giraldo P, Pocoví M, Clin Chim Acta 2011 412 365 369 10.1016/j.cca.2010.11.013 21087600
36. Unusual expression of Gaucher's disease: cardiovascular calcifications in three sibs homozygous for the D409H mutation. Chabás A, Cormand B, Grinberg D, Burguera JM, Balcells S, Merino JL, Mate I, Sobrino JA, Gonzlez-Duarte R, Vilageliu L, J Med Genet 1995 32 740 742 10.1136/jmg.32.9.740 8544197
37. An unusual presentation of Gaucher's disease: aortic valve fibrosis in a patient homozygous for a rare G377S mutation. Peri Z, Kardum-Skelin I, Puskari BJ, Letilovi T, Vrhovac R, Jaksi B, Coll Antropol 2010 34 275 278 21302732
38. High frequency of mutation G377S in Brazilian type 3 Gaucher disease patients. Rozenberg R, Araújo FT, Fox DC, Aranda P, Nonino A, Micheletti C, Martins AM, Cravo R, Sobreira E, Pereira LV, Braz J Med Biol Res 2006 39 1171 1179 10.1590/S0100-879X2006000900004 16981045 (Pubitemid 44566600)