Sixteen years of prenatal consultations for the N370S/N370S Gaucher disease genotype: What have we learned?

Prenatal Diagnosis

Volumn 30, Issue 10, 2010, Pages 924-927

  Eitan, Yael ^a   Abrahamov, Ayala ^a   Phillips, Mici ^a   Elstein, Deborah ^a   Zimran, Ari ^a  

^a SHAARE ZEDEK MEDICAL CENTER   (Israel)

Author keywords

Enzyme replacement therapy; Gaucher disease; Genotype phenotype correlation

Indexed keywords

GLUCOSYLCERAMIDASE;

ARTICLE; CHILD; CLINICAL ARTICLE; CONSULTATION; FEMALE; GAUCHER DISEASE; GENE MUTATION; GENETIC COUNSELING; GENOTYPE; GENOTYPE PHENOTYPE CORRELATION; HETEROZYGOTE; HUMAN; JEW; MALE; PRENATAL SCREENING; PRIORITY JOURNAL; QUESTIONNAIRE;

ABORTION, EUGENIC; FEMALE; GAUCHER DISEASE; GENETIC COUNSELING; GENETIC MARKERS; GENOTYPE; GLUCOSYLCERAMIDASE; HETEROZYGOTE; HOMOZYGOTE; HUMANS; INFANT, NEWBORN; ISRAEL; JEWS; MALE; MUTATION; PHENOTYPE; PRENATAL DIAGNOSIS; REGISTRIES;

EID: 77957335215     PISSN: 01973851     EISSN: 10970223     Source Type: Journal    
DOI: 10.1002/pd.2584     Document Type: Article

References (17)

1. Azuri J, Elstein D, Lahad A, Abrahamov A, Hadas-Halpern I, Zimran A. 1998. Asymptomatic Gaucher disease implications for large-scale screening. Genet Test 2: 297-299.
2. Barton NW, Brady RO, Dambrosia JM, et al. 1991. Replacement therapy for inherited enzyme deficiency-macrophage-targeted glucocerebrosidase for Gaucher's disease. N Engl J Med 324: 1464-1470.
3. 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 U S A 88: 10544-10547. (Pubitemid 21915872)
4. Beutler E, Grabowski GA. 2001. The metabolic and molecular bases of inherited diseases. In Gaucher Disease, Scriver CR, Valle D, Beudet A, Sly WS(eds). McGraw-Hill: New York; 3635-3668.
5. Beutler E, Nguyen NJ, Henneberger MW, et al. 1993. Gaucher disease: gene frequencies in the Ashkenazi Jewish population. Am J Hum Genet 52: 85-88.
6. Diaz GA, Gelb BD, Risch N, et al. 2000. Gaucher disease: the origins of the Ashkenazi Jewish N370S and 84GG acid beta-glucosidase mutations. Am J Hum Genet 66: 1821-1832.
7. Eblan MJ, Goker-Alpan O, Sidransky E. 2005. Perinatal lethal Gaucher disease: a distinct phenotype along the neuronopathic continuum. Fetal Pediatr Pathol 24: 205-222. (Pubitemid 43879267)
8. Gross SJ, Pletcher BA, Monaghan KG. 2008. Carrier screening in individuals of Ashkenazi Jewish descent. Genet Med 10: 54-56.
9. Ida H, Rennert OM, Iwasawa K, Kobayashi M, Eto Y. 1999. Clinical and genetic studies of Japanese homozygotes for the Gaucher disease L444P mutation. Hum Genet 105: 120-126.
10. th edn), vol 487. Saunder Elsevier: Philadelphia, 2091.
11. Latimer J. Becoming in-formed: genetic counselling, ambiguity and choice.2007. Health Care Anal 15: 13-23.
12. Levy-Lahad E, Zimran A. 1997. Gaucher's disease: genetic counselling and population screening. Baillieres Clin Haematol 10: 779-792. (Pubitemid 28022209)
13. Ramsay SL, Maire I, Bindloss C, et al. 2004. Determination of oligosaccharides and glycolipids in amniotic fluid by electrospray ionisation tandem mass spectrometry: in utero indicators of lysosomal storage diseases. Mol Genet Metab 83: 231-238.
14. Taddei TH, Kacena KA, Yang M, et al. 2009. The underrecognized progressive nature of N370S Gaucher disease and assessment of cancer risk in 403 patients. Am J Hematol 84: 208-214.
15. Whitfield PD, Nelson P, Sharp PC, et al. 2002. Correlation among genotype, phenotype, and biochemical markers in Gaucher disease: implications for the prediction of disease severity. Mol Genet Metab 75: 46-55.
16. Zimran A, Elstein D, Abrahamov A, Kuhl W, Brown KH, Beutler E. 1995. Prenatal molecular diagnosis of Gaucher disease. Prenat Diagn 15: 1185-1188.
17. Zuckerman S, Lahad A, Zimran A, Levy-Lahad E, Sagi M. 2008. Attitudes of couples identified through screening as carriers of Gaucher disease type 1. Clin Genet 74: 566-570.