Genotype D399N/R463C in a patient with type 3 Gaucher disease previously assigned genotype N370S/R463C

Biochemical and Molecular Medicine

Volumn 57, Issue 2, 1996, Pages 149-151

  Tayebi, Nahid ^a   Herman, Joseph ^a   Ginns, Edward I ^a   Sidransky, Ellen ^a  

^a NATIONAL INSTITUTE OF MENTAL HEALTH   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

GLUCOSYLCERAMIDASE;

ADULT; ARTICLE; CASE REPORT; DNA SEQUENCE; FEMALE; GAUCHER DISEASE; GENE MUTATION; GENETIC COUNSELING; GENOTYPE; HUMAN; HUMAN CELL;

EID: 0029930356     PISSN: 10773150     EISSN: None     Source Type: Journal    
DOI: 10.1006/bmme.1996.0021     Document Type: Article

References (20)

1. Beutler E, Grabowski GA. Gaucher disease. In The Metabolic Basis of Inherited Disease (Scriver CR, Beaudet AL, Sly WS, Valle D, Eds.). New York: McGraw-Hill, 1995, pp 2641-2670.
2. Horowitz M, Zimran A. Mutations causing Gaucher disease. Hum Mutat 3:1-11, 1994.
3. Sidransky E, Tsuji S, Martin BM, Stubblefield B, Ginns EI. DNA mutation analysis of Gaucher patients. Am J Med Genet 42:331-336, 1992.
4. Sidransky E, Bottler A, Stubblefield B, Ginns EI. DNA mutational analysis of type 1 and type 3 Gaucher patients: How well do mutations predict phenotype? Hum Mutat 3:25-28, 1994.
5. Sidransky E, Tsuji S, Stubblefield BK, Currie J, FitzGibbon EJ, Ginns EI. Gaucher patients with oculomotor abnormali-ties do not have a unique genotype. Clin Genet 41:1-5, 1992.
6. Sambrook J, Fritsch EF, Maniatis T. Molecular Cloning: A Laboratory Manual, 2nd ed. Cold Spring Harbor, NY: Cold Spring Harbor Laboratory Press, 1989.
7. Cogan DG, Chu FC, Reingold D, Barranger J. Ocular motor signs in some metabolic diseases. Arch Ophthalmol 99: 1802-1808, 1981.
8. Patterson MC, Horowitz M, Abel RB, Currie JN, Yu KT, Kaneski C, Higgins JJ, O'Neill RR, Fedio P, Pikus A et al. Isolated horizontal supranuclear gaze palsy as a marker of severe systemic involvement in Gaucher's disease. Neurology 43:1993-1997, 1993.
9. Tsuji S, Martin BM, Barranger JA, Stubblefield BK, LaMarca ME, Ginns EI. Genetic heterogeneity in type 1 Gaucher disease: multiple genotypes in Ashkenazic and non-Ashkenazic individuals. Proc Natl Acad Sci USA 85:2349-2352, 1988.
10. Mistry PK, Smith SJ, Ali M, Hatton CS, McIntyre N, Cox TM. Genetic diagnosis of Gaucher's disease. Lancet 339: 889-892, 1992.
11. Beutler E, Gelbart T. Two new Gaucher disease mutations. Hum Genet 93:209-210, 1994a.
12. Martin BM, Sidransky E, Ginns EI. Gaucher's disease: advances and challenges. Adv Pediatr 36:277-306, 1989.
13. Hong CM, Ohashi T, Yu XJ, Weiler S, Barranger JA. Sequence of two alleles responsible for Gaucher disease. DNA Cell Biol 9:233-241, 1990.
14. He GS, Grace ME, Grabowski GA. Gaucher disease: Four rare alleles encoding F213I, P289L, T323I, and R463C in type 1 variants. Hum Mutat 1:423-427, 1992.
15. Horowitz M, Wilder S, Horowitz Z, Reiner O, Gelbart T, Beutler E. The human glucocerebrosidase gene and pseudogene: structure and evolution. Genomics 4:87-96, 1989.
16. Long GL, Winfield S, Adolph KW, Ginns EI, Bornstein P. Structure and organization of the human metaxin gene (MTX) and pseudogene. Genomics, 1996, in press.
17. Bornstein P, McKinney CE, LaMarca ME, Winfield S, Shingu T, Devarayalu S, Vos HL, Ginns EI. Metaxin, a gene contiguous to both thrombospondin 3 and glucocerebrosidase, is required for embryonic development in the mouse: implications for Gaucher disease. Proc Natl Acad Sci, USA 92:4547-4551, 1995.
18. Walley AJ, Harris A. A novel point mutation (D380A) and a rare deletion (1255de 155) in the glucocerebrosidase gene causing Gaucher's disease. Hum Mol Genet 2:1737-1738, 1993.
19. Beutler E, Gelbart T. Erroneous assignment of Gaucher disease genotype as a consequence of a complete gene deletion. Hum Mutat 4:212-216, 1994b.
20. Uchiyama A, Tomatsu S, Kondo N, Suzuki Y, Shimozawa N, Fukuda S, Sukegawa K, Taki N, Inamori H, Orii T. New Gaucher disease mutations in exon 10: A novel L444R mutation produces a new NciI site the same as L444P. Hum Mol Genet 3:1183-1184, 1994.