Czech and Slovak Diamond-Blackfan Anemia (DBA) Registry update: Clinical data and novel causative genetic lesions
作者: Jana VolejnikovaPetr VojtaHelena UrbankovaRenata MojzíkovaMonika HorvathovaIvana HochovaJaroslav CermakJan BlatnyMartina SukovaEva BubanskaJaroslava FeketeovaDaniela ProchazkovaJulia HorakovaMarian HajduchDagmar Pospisilova
作者单位: 1Department of Pediatrics, Faculty of Medicine and Dentistry, Palacky University and University Hospital Olomouc, I. P. Pavlova 6, 77900 Olomouc, Czech Republic
2Institute of Molecular and Translational Medicine, Faculty of Medicine and Dentistry, Palacky University Olomouc, Hnevotinska 1333/5, 77900 Olomouc, Czech Republic
3Department of Hemato-Oncology, Faculty of Medicine and Dentistry, Palacky University and University Hospital Olomouc, I. P. Pavlova 6, 77900 Olomouc, Czech Republic
4Department of Biology, Faculty of Medicine and Dentistry, Palacky University Olomouc, Hnevotinska 3, 77900 Olomouc, Czech Republic
5Department of Hematology, Second Faculty of Medicine, Charles University and University Hospital Motol Prague, V Uvalu 84, 15006 Prague, Czech Republic
6Institute of Hematology and Blood Transfusion, U Nemocnice 2094/1, 12820 Prague, Czech Republic
7Department of Pediatric Hematology, Masaryk University and University Hospital Brno, Jihlavská 20, 62500 Brno, Czech Republic
8Department of Pediatric
刊名: Blood Cells, Molecules and Diseases, 2020, Vol.81
来源数据库: Elsevier Journal
DOI: 10.1016/j.bcmd.2019.102380
关键词: CancerDiamond-Blackfan anemia (DBA)MutationsRegistryRibosomal proteins (RP)
英文摘要: Abstract(#br)Diamond-Blackfan anemia (DBA) is a rare congenital erythroid aplasia, underlied by haploinsufficient mutations in genes coding for ribosomal proteins (RP) in approximately 70% of cases. DBA is frequently associated with somatic malformations, endocrine dysfunction and with an increased predisposition to cancer.(#br)Here we present clinical and genetic characteristics of 62 patients from 52 families enrolled in the Czech and Slovak DBA Registry. Whole exome sequencing (WES) and array comparative genomic hybridization (aCGH) were employed to identify causative mutations in newly diagnosed patients and in cases with previously unrecognized molecular pathology.(#br)RP mutation detection rate was 81% (50/62 patients). This included 8 novel point mutations and 4 large deletions...
全文获取路径: Elsevier  (合作)
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影响因子:2.259 (2012)

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关键词翻译
关键词翻译
  • Diamond 钻石牌手表
  • DBA Data Base Administration
  • Slovak 斯洛伐克人
  • update 修改
  • causative 表示原因的
  • genetic 遗传的
  • anemia 贫血
  • novel 长篇小说
  • Czech 捷克人
  • proteins 蛋白质