Diamond-Blackfan anemia, ribosome and erythropoiesis.
Diamond-Blackfan anemia, ribosome and erythropoiesis.
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DOI：
10.1016/j.tracli.2010.06.001
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发表时间：
2010-09
影响因子：
1.7
通讯作者：
Leblanc, T.
中科院分区：
文献类型：
--
作者：
Da Costa, L.;Moniz, H.;Simansour, M.;Tchernia, G.;Mohandas, N.;Leblanc, T.
Diamond-Blackfan贫血是一种罕见的遗传性骨髓衰竭综合征（5 - 7例/百万活产），其特征是在其他正常骨髓中缺乏或少于5%的红系前体细胞（成红细胞减少症）的生成性贫血，通常为大红细胞贫血。血小板和白色细胞计数通常正常，但在诊断时注意到中性粒细胞减少症、血小板减少症或血小板增多症。在40%至50%的DBA患者中，已描述了主要在头部区域和拇指和上肢的先天性异常。最近的分析确实显示了表型/基因型相关性。先天性DBA成红细胞减少症是第一个被鉴定为由核糖体生物合成缺陷引起的人类疾病。1999年发现了第一个与DBA有关的核糖体基因，即核糖体蛋白（RP）基因S19（RPS 19基因）。随后，在DBA中鉴定了总共78个RP基因中的12个其他RP基因的突变。迄今为止描述的所有RP基因突变都是杂合的，并且在40%至45%的受影响个体中记录了显性遗传。由于RP突变在大约50%的DBA病例中尚未被鉴定，因此可能涉及核糖体生物发生或其他途径的其他尚未被鉴定的基因可能是DBA表型的原因。
Diamond-Blackfan anemia is a rare inherited bone marrow failure syndrome (5 to 7 cases/million live births) characterized by an are generative, usually macrocytic anemia with an absence or less than 5% of erythroid precursors (erythroblastopenia) in an otherwise normal bone marrow. The platelet and the white cell counts are usually normal but neutropenia, thrombopenia or thrombocytosis have been noted at diagnosis. In 40 to 50% of DBA patients, congenital abnormalities mostly in the cephalic area and in thumbs and upper limbs have been described. Recent analysis did show a phenotype/genotype correlation. Congenital erythroblastopenia of DBA is the first human disease identified to result from defects in ribosomal biogenesis. The first ribosomal gene involved in DBA, ribosomal protein (RP) gene S19 (RPS19 gene), was identified in 1999. Subsequently, mutations in 12 other RP genes out of a total of 78 RP genes have been identified in DBA. All RP gene mutations described to date are heterozygous and dominant inheritance has been documented in 40 to 45% of affected individuals. As RP mutations are yet to be identified in approximately 50% of DBA cases, it is likely that other yet to be identified genes involved in ribosomal biogenesis or other pathways may be responsible for DBA phenotype.
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影响因子：
20.3
作者：
Da Costa, L;Tchernia, G;Mohandas, N
通讯作者：
Mohandas, N
影响因子：
20.3
作者：
Choesmel, Valerie;Bacqueville, Daniel;Gleizes, Pierre-Emmanuel
通讯作者：
Gleizes, Pierre-Emmanuel
影响因子：
9.8
作者：
Doherty, Leana;Sheen, Mee Rie;Gazda, Hanna T.
通讯作者：
Gazda, Hanna T.
影响因子：
12.8
作者：
Akiyama, M;Yanagisawa, T;Eto, Y
通讯作者：
Eto, Y
影响因子：
6.5
作者：
CASADEVALL, N;CROISILLE, L;COULOMBEL, L
通讯作者：
COULOMBEL, L