Clinical and genetic characteristics of Korean patients with Gaucher disease

Blood Cells, Molecules, and Diseases

Volumn 46, Issue 1, 2011, Pages 11-14

  Jeong, Seon Yong ^a   Park, Sang Jin ^b   Kim, Hyon J ^a  

^a Ajou University School of Medicine   (South Korea)

^b MG MED Inc   (South Korea)

Author keywords

Gaucher disease; GBA gene; Lysosomal storage disorder; Mutation

Indexed keywords

GLUCOSYLCERAMIDASE;

ADOLESCENT; ADULT; ALLELE; ARTICLE; CHILD; CLINICAL ARTICLE; CONTROLLED STUDY; ETHNIC GROUP; FEMALE; GAUCHER DISEASE; GENE DELETION; GENE MUTATION; GENETIC ANALYSIS; GENETIC RECOMBINATION; HUMAN; MALE; MUTANT; PRESCHOOL CHILD; PREVALENCE; PRIORITY JOURNAL; RNA SPLICING; SCHOOL CHILD; SOUTH KOREA;

ADOLESCENT; ADULT; ALLELES; CHILD; CHILD, PRESCHOOL; ETHNIC GROUPS; FEMALE; GAUCHER DISEASE; GENE FREQUENCY; GENETIC PREDISPOSITION TO DISEASE; GLUCOSYLCERAMIDASE; HUMANS; INFANT; KOREA; MALE; MIDDLE AGED; MUTATION; PHENOTYPE; POLYMERASE CHAIN REACTION;

EID: 78650842653     PISSN: 10799796     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.bcmd.2010.07.010     Document Type: Article

References (24)

1. Sidransky E. Gaucher disease: complexity in a "simple" disorder. Mol. Genet. Metab. 2004, 83:6-15.
2. Grabowski G.A. Recent clinical progress in Gaucher disease. Curr. Opin. Pediatr. 2005, 17:519-524.
3. Chen M., Wang J. Gaucher disease: review of the literature. Arch. Pathol. Lab. Med. 2008, 132:851-853.
4. Horowitz M., Wilder S., Horowitz Z., Reiner O., Gelbart T., Beutler E. The human glucocerebrosidase gene and pseudogene: structure and evolution. Genomics 1989, 4:87-96.
5. Wafaei J.R., Choy F.Y.M. Glucocerebrosidase recombinant allele: molecular evolution of the glucocerebrosidase gene and pseudogene in primates. Blood Cells Mol. Dis. 2005, 35:277-285.
6. Tayebi N., Stubblefield B.K., Park J.K., Orvisky E., Walker J.M., LaMarca M.E., Sidransky E. Reciprocal and nonreciprocal recombination at the glucocerebrosidase gene region: implications for complexity in Gaucher disease. Am. J. Hum. Genet. 2003, 72:519-534.
7. Harmanci O., Bayraktar Y. Gaucher disease: new developments in treatment and etiology. World J. Gastroenterol. 2008, 14:3968-3973.
8. Hruska K.S., LaMarca M.E., Scott C.R., Sidransky E. Gaucher disease: mutation and polymorphism spectrum in the glucocerebrosidase gene (GBA). Hum. Mutat. 2008, 29:567-583.
9. Stone D.L., 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.
10. Koprivica V., Stone D.L., Park J.K., Callahan M., Frisch A., Cohen I.J., Tayebi N., Sidransky E. 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.
11. Brady R.O., Barton N.W., Grabowski G.A. The role of neurogenetics in Gaucher disease. Arch. Neurol. 1993, 50:1212-1224.
12. Horowitz M., Tzuri G., Eyal N., Berebi A., Kolodny E.H., Brady R.O., Barton N.W., Abrahamov A., Zimran A. Prevalence of nine mutations among Jewish and non-Jewish Gaucher disease patients. Am. J. Hum. Genet. 1993, 53:921-930.
13. Filocamo M., Mazzotti R., Stroppiano M., Seri M., Giona F., Parenti G., Regis S., Corsolini F., Zoboli S., Gatti R. Analysis of the glucocerebrosidase gene and mutation profile in 144 Italian Gaucher patients. Hum. Mutat. 2002, 20:234-235.
14. 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. Prevalence of glucocerebrosidase mutations in the Israeli Ashkenazi Jewish population. Hum. Mutat. 1998, 12:240-244.
15. Ida H., Rennert O.M., Iwasawa K., Kobayashi M., Eto Y. Clinical and genetic studies of Japanese homozygotes for the Gaucher disease L444P mutation. Hum. Genet. 1999, 105:120-126.
16. Tajima A., Yokoi T., Ariga M., Ito T., Kaneshiro E., Eto Y., Ida H. Clinical and genetic study of Japanese patients with type 3 Gaucher disease. Mol. Genet. Metab. 2009, 97:272-277.
17. Kim J.W., Liou B.B., Lai M.Y., Ponce E., Grabowski G.A. Gaucher disease: identification of three new mutations in the Korean and Chinese (Taiwanese) populations. Hum. Mutat. 1996, 7:214-218.
18. Dvir H., Harel M., McCarthy A.A., Toker L., Silman I., Futerman A.H., Sussman J.L. X-ray structure of human acid-beta-glucosidase, the defective enzyme in Gaucher disease. EMBO Rep. 2003, 4:704-709.
19. Beutler E., Demina A., Gelbart T. Glucocerebrosidase mutations in Gaucher disease. Mol. Med. 1994, 1:82-92.
20. Kawame H., Eto Y. A new glucocerebrosidase-gene missense mutation responsible for neuronopathic Gaucher disease in Japanese patients. Am. J. Hum. Genet. 1991, 49:1378-1380.
21. Beutler E., Gelbart T. Hematologically important mutations: Gaucher disease. Blood Cells Mol. Dis. 1998, 24:2-8.
22. Hodanova K., Hrebicek M., Cervenkova M., Mrazova L., Veprekova L., Zemen J. Analysis of the beta-glucocerebrosidase gene in Czech and Slovak Gaucher patients: mutation profile and description of six novel mutant alleles. Blood Cells Mol. Dis. 1999, 25:287-298.
23. Eto Y., Ida H. Clinical and molecular characteristics of Japanese Gaucher disease. Neurochem. Res. 1999, 24:207-211.
24. Choy F.Y.M., Zhang W., Shi H.P., Zay A., Campbell T., Tang N., Ferreira P. Gaucher disease among Chinese patients: review on genotype/phenotype correlation from 29 patients and identification of novel and rare alleles. Blood Cells Mol. Dis. 2007, 38:287-293.