分子基础Diamond-Blackfan贫血:新发现的意大利注册表和文献之回顾。
文章的细节
-
引用
复制到剪贴板 -
Campagnoli MF, Garelli E, Quarello P, Carando, Varotto表示,Nobili B, Longoni D, Pecile V, Zecca M,杜福尔C, Ramenghi U, Dianzan我
分子基础Diamond-Blackfan贫血:新发现的意大利注册表和文献之回顾。
Haematologica。2004年4月,89 (4):480 - 9。
- PubMed ID
-
15075082 (在PubMed]
- 文摘
-
背景和目的:Diamond-Blackfan贫血(DBA)是一种罕见的、纯红细胞再生障碍性贫血的童年造成红血球生成的祖细胞的内在缺陷。畸形发生在大约40%的患者。beplayapp超过一半的患者应对类固醇;无需要长期输血或干细胞移植(SCT)。突变基因编码核糖体蛋白S19中发现25%的患者,但与红细胞生成的联系还不清楚。第二个染色体8 p22-p23 DBA位点被发现;分析该地区正在进行的基因。方法和信息来源:我们目前临床和分子数据从97年意大利DBA病人和文献之回顾。结果和状态的艺术:我们描述五个新RPS19基因突变:四个点突变和一个不平衡的染色体易位。血液的发现,畸形和结果是相似的RPS19突变和non-mutated组。 No genotype-phenotype correlation has been found so far in RPS19 mutated patients. Our data, however, and a thorough review of literature show a worse outcome (expressed as transfusion dependence) in patients with mutations that completely abolish one allele, i.e. gross chromosomal rearrangements and mutations at the initiation codon. The association of mental retardation with large deletions at the 19q locus points to a contiguous gene syndrome. A recurrent missense mutation (Arg62Trp) is associated with transfusion dependence in eight of the nine reported cases. PERSPECTIVES: Nationwide collaboration and population-based registries recording molecular data are essential for the further dissection of this rare heterogeneous disease and the definition of new therapeutic trials.