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一个先天性红细胞生成异常性贫血家系SEC23B及HFE2基因突变研究 被引量:4

Congenital dyserythropoietic anemia type II with novel mutations in SEC23B and EFE2 genes: a Chinese family survey
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摘要 目的探讨先天性红细胞生成异常性贫血(cDA)的新基因突变。方法对一例以乏力及尿色加深起病的50岁男性CDA1I患者及其家系成员进行CDAI的CDAN1和CDA11的SEC23B基因检测,并采用质谱技术检测铁调素水平,结合文献进行复习。结果先证者的SEC23B基因中检测到一个无义突变(c.71G〉A)及一个错义突变(c.74C〉A),在这例患者的健康直系亲属中还检测到HFE2基因的一个杂合突变(c.55A〉G)。同时,先证者血清铁调素水平低于检测下限(〈1nmol/L)。结论该家系中存在一个无义突变(c.71G〉A)及一个错义突变(c.74C〉A),这两个突变在东亚CDAⅡ患者中首次报道,且不同于先前广泛在欧洲患者特别是意大利患者中发现的基因突变类型,可能为东亚CDAII患者特有。 Objective To report novel mutations SEC23B gene in congenital dyserythropoietic anemia (CDA). Methods By direct sequencing method, we sequenced CDAN1 and SEC23B genes in a Chinese CDA 11 patient, presented with chronic fatigue and dark urine, as well as his family members. Serum hepcidin was assayed by mass spectrometry. Results We found a c.71G〉A mutation and a c.74C〉 A mutation in the patient. In addition, a heterozygous c.55A〉G mutation of HFE2 gene was found in some family members. The level of serum hepcidin of the patient was below the detection limit (〈1 nmol/L). Conclusion Contrary with what have been reported previously in the Europe, especially in the Italy, the gene mutations identified in this case was different and novel. The two novel mutations contribute to the diagnosis of CDA I1 and are the first report in East Asian CDA 11 patients.
出处 《中华血液学杂志》 CAS CSCD 北大核心 2013年第8期704-708,共5页 Chinese Journal of Hematology
基金 国家自然科学基金(20108107040) 卫生公益性行业科研专项(201202017)
关键词 贫血 红细胞生成障碍性 先天性 无效造血 突变 铁调素 基因 SEC23B Anemia, dyserythropoietic, congenital Ineffective erythropoiesis Mutation Hepcidin Gene, SEC23B
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参考文献9

  • 1Iolascon A, Russo R, Esposito MR, et al. Molecular analysis of 42 patients with congenital dyserythropoietic anemia type Il : new mutations in the SEC23B gene and a search for a genotype.phenotype relationship. Haematologica, 2010, 95:708-715.
  • 2Liu G, Niu S, Dong A, et al. A Chinese family carrying novel mutations in SEC23B and HFE2, the genes responsible for con.genital dyserythropoietic anaemia n (CDA ll ) and primary iron overload, respectively. BrJ Haematol, 2012,158:143-145.
  • 3Bansal SS, HalketJM, FusovaJ, et al. Quantification ofhepcidin using matrix- assisted laser desorption/ionization time- of- flight mass spectrometry. Rapid Commun Mass Spectrom, 2009, 23: 1531-1542.
  • 4Wickramasinghe SN, Wood WG. Advances in the understanding of the congenital dyserythropoietic anaemias. BrJ Haematol, 2005, 131 :431-446.
  • 5Kamiya T, Manabe A. Congenital dyserythropoietic anemia. IntJ Hematol, 2010, 92:432-438.
  • 6Schwarz K, lolascon A, Verissimo F, et al. Mutations affecting the secretory COPIl coat component SEC23B cause congenital dyserythropoietic anemia type n. Nat Genet, 2009, 41 :936-940.
  • 7李园,赵馨,周康,李洋,李建平,叶蕾,彭广新,樊慧慧,井丽萍,张莉,张凤奎.先天性红细胞生成异常性贫血Ⅱ型一例报告并文献复习[J].中华血液学杂志,2012,33(4):270-273. 被引量:4
  • 8Casanovas G, Swinkels DW, A1tamura S, et al. Growth differen.tiation factor 15 in patients with congenital dyserythropoietic anaemia (CDA) type n.J Mol Med (Berl), 2011, 89:811-816.
  • 9Heimpel H, Anselstetter V, Chrobak L, et al. Congenital dyserythropoietic anemia type Il : epidemiology, clinical appearance, and prognosis based on long- term observation. Blood, 2003, 102:4576-4581.

二级参考文献15

  • 1Crookston JH,Godwin TF,Wightmann KJR. Congenital Dyserythropoietic Anaemia[J].Abstracts from the XI th Congress of the International Society of Haematology,1966.Sydney.
  • 2Heimpel H,Wendt F. Congenital dyserythropoietic anemia with karyorrhexis and multinuclearity of erythroblasts[J].Helvetica Medica Acta,1968.103-115.
  • 3Heimpel H,Anselstetter V,Chrobak L. Congenital dyserythropoietic anemia typeⅡ:epidemiology,clinical appearance,and prognosis based on long-term observation[J].Blood,2003.4576-4581.
  • 4Amir A,Dgany 0,Krasnov T. E109K is a SEC23B founder mutation among Israeli Moroccan Jewish patients with congenital a-nemia typeⅡ[J].Acta Haematologica,2011.202-207.
  • 5Heimpel H,Matuschek A,Ahmed M. Frequency of congenital dyserythropoietic anemias in Europe[J].European Journal of Haematology,2010.20-25.
  • 6Kamiya T,Manabe A. Congenital dyserythropoietic anemia[J].International Journal of Hematology,2010.432-438.
  • 7Perrotta S,del Giudice EM,Carbone R. Gilbert' s syndrome accounts for the phenotypic variability of congenital dyserythropoietic anemia type Ⅱ (CDA-Ⅱ)[J].Journal of Pediatrics,2000.556-559.
  • 8Iolascon A,Delaunay J,Wickramasinghe SN. Natural history of congenital dyserythropoietic anemia typeⅡ[J].Blood,2001.1258-1260.
  • 9Wickramasinghe SN. Congenital dyserythropoietic anemias:clinical features,haematological morphology and new biochemical data[J].Blood Reviews,1998.178-200.
  • 10Heimpel H,Kellermann K,Neuschwander N. The morphological diagnosis of congenital dyserythropoietic anemia:results of a quantitative analysis of peripheral blood and bone marrow cells[J].Haematologica,2010.1034-1036.

共引文献3

同被引文献37

  • 1Dgany O,Avidan N,Delaunay J,et al.Congenital dyserythropoietic anemia type Ⅰ is caused by mutations in codanin-1[J].Am J Hum Genet,2002,71(6):1467-1474.
  • 2Goede JS,Benz R,Fehr J,et al.Congenital dyserythropoietic anemia type Ⅰ with bone abnormalities,mutations of the CDAN1 gene,and significant responsiveness to alpha-interferon therapy[J].Ann Hematol,2006,85(9):591-595.
  • 3Iolascon A,Esposito MR,Russo R,et al.Clinical aspects and pathogenesis of CDAs:from morphology to molecular approach[J].Hematologica,2012,97(12):1786-1794.
  • 4Ahmed MR,Chehal A,Zahed L,et al.Linkage and mutational analysis of the CDAN1 gene reveals genetic heterogeneity in congenital dyserythropoietic anemia type Ⅰ[J].Blood,2006,107(12):4968-4969.
  • 5Iolascon A,Delaunay J.Close to unraveling the secrets of congenital dyserythropoietic anemia type Ⅰ and Ⅱ[J].Hematologica,2009,94(5):599-602.
  • 6Kamiya T,Manabe A.Congenital dyserythropoietic anemia[J].Int J Hematol,2010,92(3):432-438.
  • 7Iolascon A,Heimpel H,Wahlin A,et al.Congenital dyserythropoietic anemias:molecular insights and diagnostic approach[J].Blood,2013,122(13):2162-2166.
  • 8Makyio H,Ohgi M,Takei T,et al.Structural basis for Arf6MKLP1 complex formation on the Flemming body responsible forcytokinesis[J].EMBOJ,2012,31(11):2590-2603.
  • 9Matuliene J,Kuriyama R.Kinesin-like protein CHO1 is required for the formation of midbody matrix and the completion of cytokinesis in mammalian cells[J].Mol Biol Cell,2002,13(6):1832-1845.
  • 10Liljeholm M,Irvine AF,Vikberg AL,et al.Congenital dyserythropoietic anemia type Ⅲ (CDA Ⅲ) is caused by a mutation in kinesin family member,KIF23[J].Blood,2013,121(23):4791-4799.

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二级引证文献5

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