Molecular analysis of Gancher disease: Distribution of eight mutations and the complete gene deletion in 27 patients from Germany

Human Genetics

Volumn 99, Issue 6, 1997, Pages 816-821

  Le Coutre, Philipp ^a,d   Demina, Anna ^b   Beutler, Ernest ^b   Beck, Michael ^c   Petrides, Petro E ^a  

^a LUDWIG MAXIMILIANS UNIVERSITY   (Germany)

^b SCRIPPS RESEARCH INSTITUTE   (United States)

^c JOHANNES GUTENBERG UNIVERSITY   (Germany)

^d NATIONAL CANCER INSTITUTE   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

DNA; GLUCOSYLCERAMIDASE;

ADOLESCENT; ADULT; AMINO ACID SUBSTITUTION; ARTICLE; CHILD; CLINICAL ARTICLE; FEMALE; GAUCHER DISEASE; GENE DELETION; GENE FREQUENCY; GENE MUTATION; GENOTYPE; HUMAN; HUMAN CELL; JEW; LEUKOCYTE; LYSOSOME STORAGE DISEASE; MALE; NUCLEOTIDE SEQUENCE; POLYMERASE CHAIN REACTION; POPULATION GENETICS; PRESCHOOL CHILD; PRIORITY JOURNAL; PSEUDOGENE; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; SCHOOL CHILD; ALLELE; ETHNOLOGY; GENETICS; GERMANY; MIDDLE AGED; MUTATION; PHENOTYPE;

ADOLESCENT; ADULT; ALLELES; CHILD; CHILD, PRESCHOOL; FEMALE; GAUCHER DISEASE; GENE DELETION; GENOTYPE; GERMANY; HUMANS; MALE; MIDDLE AGED; MUTATION; PHENOTYPE; POLYMORPHISM, RESTRICTION FRAGMENT LENGTH;

EID: 0030610427     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: 10.1007/s004390050454     Document Type: Article

References (26)

1. Abramahov A, Elstein D, Gross-Tsur V, Farber B, Glaser Y, Hada-Halpern I, Ronen S, Tafakjdi M, Horowitz M, Zimran A, Hadas-Halpern I.(1995) Gaucher's disease variant characterised by progressive calcification of heart valves and unique genotype. Lancet 346:1000-1003
2. Amaral O, Lacerda L, Santos R, Pinto RA, Aerts H, Sa-Miranda MC (1993) Type 1 Gaucher disease: molecular, biochemical, and clinical characterization of patients from northern Portugal. Biochem Mol Med 49:97-107
3. Balicki D, Beutler E (1995) Gaucher disease. Medicine 74:305-323
4. Barneveld RA, Keijzer W, Tegelaers FPW, Ginns EI, Geurts van Kessel A, Brady RO, Barranger JA, et al(1983) Assignment of the gene coding for human ß-glucocerebrosidase to the region q21 of chromosome 1 using monoclonal antibodies. Hum Genet 64:227-231
5. Beutler E, Gelbart T (1993) Gaucher disease mutations in non-Jewish patients. Br J Haematol 85:401-405
6. Beutler E, Gelbart T (1994) Erroneous assignment of Gaucher disease phenotype as a consequence of a complete gene deletion. Hum Mutat 4:212-216
7. Beutler E, Gelbart T (1997) Hematologically important mutations: Gaucher disease. Blood Cells Mol Dis 23:2-7
8. Beutler E, Gelbart T, Kuhl W, Sorge J, West C (1991) Identification of the second common Jewish Gaucher disease mutation makes possible population-based screening for the heterozygous state. Proc Natl Acad Sci USA 88:10544-10547
9. Beutler E, Gelbart T, Kuhl W, Zimran A, West C (1992) Mutations in Jewish patients with Gaucher disease. Blood 79:1662-1666
10. Beutler E, Gelbart T, West C (1993) Identification of six new Gaucher disease mutations. Genomics 15:203-205
11. Beutler E, Kattamis C, Sipe J, Lipson M (1995) The 1342C mutation in Gaucher's disease. Lancet 346:1637
12. Cormand B, Vilageliu L, Burguera JM, Balcells S, Gonzàlez-Duarte R, Grinberg D, Chabàs A (1995) Gaucher disease in Spanish patients: analysis of eight mutations. Hum Mutat 5: 303-309
13. +I IVS2 splice donor site mutation causing exon 2 skipping in the acid β-glucosidase mRNA. Am J Hum Genet 51:810-820
14. Hong CM, Ohashi T, Yu XJ, Weiler S, Barranger JA (1990) Sequence of two alleles responsible for Gaucher disease. DNA Cell Biol 9:233-241
15. 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
16. Horowitz M, Tzuri G, Eyal N, Berebi A, Kolodny EH, Brady RO, Barton NW, Abrahamov A, Zimran A (1993) Prevalence of nine mutations among Jewish and non-Jewish Gaucher disease patients. Am J Hum Genet 53:921-930
17. 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
18. Mistry PK (1995) Genotype/phenotype correlations in Gaucher's disease. Lancet 346:982
19. Petrides PE (1995) Morbus Gaucher: Diagnose und Therapie. Dtsch Med Wochenschr 120:1177-1182
20. Shafit-Zagardo B, Devine EA, Smith A, Arredondo GAF, Desnick RJ (1981) Assignment of the gene for beta-glucosidase to human chromosome 1. Am J Hum Genet 33:564-575
21. Sibille A, Eng CM, Kim SJ, Pastores G, Grabowski GA (1993) Phenotype/genotype correlations in Gaucher disease type I: clinical and therapeutic implications. Am J Hum Genet 52:1094-1101
22. Sorge J, West C, Westwood B, Beutler E (1985) Molecular cloning and nucleotide sequence of the human glucocerebrosidase gene. Proc Natl Acad Sci USA 82:7289-7293
23. Theophilus BDM, Latham T, Grabowski GA, Smith FI (1989) Comparison of RNase A, a chemical cleavage and GC-clamped denaturing gradient gel electrophoresis for the detection of mutations in exon 9 of the human acid β-glucocerebrosidase gene. Nucleic Acids Res 17:7707-7722
24. Tsuji S, Choudary PV, Martin BM, Stubblefield BK, Mayor JA, Barranger JA, Ginns EI (1987) A mutation in the human glucocerebrosidase gene in neuronopathic Gaucher's disease. N Engl J Med 316:570-575
25. Tsuji S, Martin BM, Barranger JA, Stubblefield BK, LaMarca ME, Ginns EI (1988) Genetic heterogeneity in type 1 Gaucher disease: multiple genotypes in Ashkenazic and non-Ashkenazic individuals. Proc Natl Acad Sci USA 85:2349-2352
26. Walley AJ, Barth ML, Ellis I, Fensom AH, Harris A (1993) Gaucher's disease in the United Kingdom: screening non-Jewish patients for the two common mutations. J Med Genet 30:280-283