Clinical Phenotype and Genetic Analysis of RPS19, RPL5, and RPL11 Genes in Greek Patients With Diamond Blackfan Anemia
Clinical Phenotype and Genetic Analysis of RPS19, RPL5, and RPL11 Genes in Greek Patients With Diamond Blackfan Anemia
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DOI：
10.1002/pbc.25183
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发表时间：
2014-12-01
影响因子：
3.2
通讯作者：
Kattamis, Antonis
中科院分区：
文献类型：
--
作者：
Delaporta, Polyxeni;Sofocleous, Christalena;Kattamis, Antonis
背景钻石黑扇贫血 (DBA) 是一种罕见的先天性骨髓衰竭综合征，其特征为正色素性大红细胞贫血、网织红细胞减少症以及正常细胞骨髓中红系前体细胞缺失或不足，通常与躯体畸形相关。在此，我们介绍了希腊 DBA 登记处记录的 17 名患者的研究结果。程序对患者进行临床评估并收集数据，然后对 RPS19、RPL5 和 RPL11 基因进行分子分析。突变筛查包括PCR扩增、ECMA分析和直接测序。结果71%的患者存在先天性异常。 6 名患者 (35.2%) 被发现携带 RPS19 基因（3 名患者）或 RPL5 基因（3 名患者）突变。 RPL5 基因中检测到的突变 c.C390G (p.Y130X) 和 c.197_198insA (p.Y66X) 是新的。希腊DBA患者中未发现RPL11基因突变。结论患者的临床病程与之前的报道相似。成年DBA患者发生甲状腺癌是DBA中首次报道。儿科血癌 2014 年；61：2249-2255。 (c) 2014 年 Wiley 期刊公司。
BackgroundDiamond Blackfan Anemia (DBA) is a rare congenital, bone marrow failure syndrome characterized by normochromic macrocytic anemia, reticulocytopenia and absence or insufficiency of erythroid precursors in normocellular bone marrow, frequently associated with somatic malformations. Here, we present our findings from the study of 17 patients recorded in the Greek DBA registry.ProcedureClinical evaluation of patients and data collection was performed followed by the molecular analysis of RPS19, RPL5, and RPL11 genes. Mutation screening included PCR amplification, ECMA analysis, and direct sequencing.ResultsCongenital anomalies were observed in 71% of the patients. Six patients (35.2%) were found to carry mutations on either the RPS19 gene (three patients,) or the RPL5 gene (three patients). Mutations c.C390G (p.Y130X) and c.197_198insA (p.Y66X) detected in the RPL5 gene were novel. No mutations at the RPL11 gene were identified in Greek patients with DBA.ConclusionsThe clinical course of the patients was similar to previous reports. The occurrence of thyroid carcinoma in an adult patient with DBA is the first to be reported in DBA. Pediatr Blood Cancer 2014;61:2249-2255. (c) 2014 Wiley Periodicals, Inc.