A novel genotype c.1228C>G/c.1448C-1498C (L371V/Rec-NciI) in a 3-year-old child with type 1 Gaucher disease

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• 作者：Nabil A. Yassin (1)
  Samar A. Muwakkit (2)
  Ahmad O. Ibrahim (3)
  Imad M. Kayim (4)
  Mohammad-Zohair M. Habbal (5)
  Nabil M. Chamseddine (6)
  Khaled M. Musallam (7)
  Ali I. Shamseddine (7)
  
• 关键词：Gaucher disease ; genotype ; imiglucerase ; L371V ; phenotype ; Rec ; NciI
• 刊名：Journal of Applied Genetics
• 出版年：2008
• 出版时间：December 2008
• 年：2008
• 卷：49
• 期：4
• 页码：421-424
• 全文大小：64KB
• 参考文献：1. Beutler E, Nguyen NJ, Henneberger MW, Smolec JM, McPherson RA, West C, et al. 1993. Gaucher disease: gene frequencies in the Ashkenazi Jewish population. Am J Hum Genet 52: 85鈥?8.
  2. Beutler E, Gelbart T, 1993. Gaucher disease mutations in non-Jewish patients. Br J Haematol 85: 401鈥?05. CrossRef
  3. Beutler E, Demina A, Gelbart T, 1994. Glucocerebrosidase mutations in Gaucher disease. Mol Med 1: 82鈥?2.
  4. Beutler E, Gelbart T, 1998. Hematologically important mutations: Gaucher disease. Blood Cells Mol Dis 24: 2鈥?. CrossRef
  5. Boas FE, 2000. Linkage to Gaucher mutations in the Ashkenazi population: effect of drift on decay of linkage disequilibrium and evidence for heterozygote selection. Blood Cell Mol Dis 26: 348鈥?59. CrossRef
  6. Choy FY, Humphries ML, Ferreira P, 1997. Novel insertion mutation in a non-Jewish Caucasian type 1 Gaucher disease patient. Am J Med Genet 68: 211鈥?15. CrossRef
  7. Choy FY, Zhang W, Shi HP, Zay A, Campbell T, Tang N, et al. 2007. Gaucher disease among Chinese patients: review on genotype/phenotype correlation from 29 patients and identification of novel and rare alleles. Blood Cell Mol Dis 38: 287鈥?93. CrossRef
  8. Finn LS, Zhang M, Chen SH, Scott CR, 2000. Severe type II Gaucher disease with ichthyosis, arthrogryposis and neuronal apoptosis: molecular and pathological analyses. Am J Med Genet 91: 222鈥?26. CrossRef
  9. Firon N, Eyal N, Kolodny EH, Horowitz M, 1990. Genotype assignment in Gaucher disease by selective amplification of the active glucocerebrosidase gene. Am J Hum Genet 46: 527鈥?32.
  10. Ginns EI, Choudary PV, Tsuji S, Martin B, Stubblefield B, Sawyer J, et al. 1985. Gene mapping and leader polypeptide sequence of human glucocerebrosidase: implications for Gaucher disease. Proc Natl Acad Sci USA 82: 7101鈥?105. CrossRef
  11. Guggenbuhl P, Grosbois B, Chale鈥檚 G, 2008. Gaucher disease. Joint Bone Spine 75: 116鈥?24. CrossRef
  12. Ida H, Rennert OM, Kobayashi M, Eto Y, 2001. Effects of enzyme replacement therapy in thirteen Japanese paediatric patients with Gaucher disease. Eur J Pediatr 160: 21鈥?5. CrossRef
  13. Kaplan P, Mazur A, Manor O, Charrow J, Esplin J, Gribble TJ, et al. 1996. Acceleration of retarded growth in children with Gaucher disease in children with Gaucher disease after treatment with alglucerase. J Pediatr 129: 149鈥?53. CrossRef
  14. Sabbah I, Drouby N, Sabbah S, Retel-Rude N, Mercier M, 2003. Quality of life in rural and urban populations in Lebanon using SF-36 health survey. Health Qual Life Outcomes 1: 30. CrossRef
  15. Shamseddine A, Taher A, Fakhani S, Zhang M, Scott CR, Habbal MZ, 2004. Novel mutation, L371V, causing multigenerational Gaucher disease in a Lebanese family. Am J Med Genet A 125: 257鈥?60. CrossRef
  16. Ware JE Jr, 1997. SF-36 Health Survey manual and interpretation guide. 2nd edn. Boston, Massachusetts: The Health Institute, New England Medical Center.
  
• 作者单位：Nabil A. Yassin (1)
  Samar A. Muwakkit (2)
  Ahmad O. Ibrahim (3)
  Imad M. Kayim (4)
  Mohammad-Zohair M. Habbal (5)
  Nabil M. Chamseddine (6)
  Khaled M. Musallam (7)
  Ali I. Shamseddine (7)
  
  1. Children鈥檚 Hematology/Oncology Unit, Department of Pediatrics, Makassed Hospital, Beirut, Lebanon
  2. Children鈥檚 Cancer Center, Department of Pediatrics, American University of Beirut Medical Center, Riad El Solh, P.O. Box: 11-0236, 1107 2020, Beirut, Lebanon
  3. Hematology, Oncology & Bone Marrow Transplantation Center, Makassed Hospital, Beirut, Lebanon
  4. Medical Laboratory, University of Balamand, Beirut, Lebanon
  5. Department of Pathology and Laboratory Medicine, American University of Beirut Medical Center, Beirut, Lebanon
  6. Department of Hematology/Oncology, Saint George Hospital-Balamand University Medical center, Beirut, Lebanon
  7. Division of Hematology/Oncology, Department of Internal Medicine, American University of Beirut Medical Center, Beirut, Lebanon
  
• ISSN：2190-3883

文摘

Gaucher disease (GD) is an autosomal recessive inborn error of metabolism, resulting from a deficiency of the enzyme glucocerebrosidase, causing an accumulation of the glycolipid glucocerebroside within lysosomes of macrophages in the reticuloendothelial system. Three major clinical forms have been assigned and more than 200 gene mutations have been identified. We herein report a Lebanese boy born with a novel combined mutation L371V/Rec-NciI, who presented with moderate-severe type 1 GD. An overview of the clinical and biomarker improvement following enzyme replacement therapy with imiglucerase is described in a follow-up of 30 months. Imiglucerase seems to be efficacious in decreasing the severity of the disease associated with this mutation. However, a high dose may be required to achieve optimal growth, platelet count, and hemoglobin level.