遗传性骨髓衰竭综合征:范可尼贫血、先天性角化异常和Diamond - Blackfan贫血

I. Dokal
{"title":"遗传性骨髓衰竭综合征:范可尼贫血、先天性角化异常和Diamond - Blackfan贫血","authors":"I. Dokal","doi":"10.1046/J.1468-0734.2000.00015.X","DOIUrl":null,"url":null,"abstract":"The inherited bone marrow (BM) failure syndromes, Fanconi anemia (FA), dyskeratosis congenita (DC) and Diamond–Blackfan anemia (DBA), are genetic disorders in which patients develop BM failure at a high frequency, usually in association with a number of somatic abnormalities. The recent identification of four FA genes (FANCA, FANCC, FANCF, FANCG), one DC gene (DKC1) and one DBA gene (RPS19) has confirmed their genetic heterogeneity and has provided new methods of diagnosis; this is particularly useful where clinical presentation is atypical, as in the Hoyeraal–Hreidarsson syndrome, a severe variant of X-linked DC. Recent data suggest that the FA proteins function in a novel cell pathway which has an important role in maintaining genomic stability; the DKC1 encoded nucleolar protein, dyskerin, is predicted to have an important role in ribosomal RNA (rRNA) processing and the RPS19 protein is a structural ribosomal protein. These syndromes therefore provide important information about novel cell pathways which may lead to a better understanding of normal hematopoiesis and of the poorly understood idiopathic aplastic anemia (AA). In turn, this may lead to new treatments, not only for FA, DC and DBA, but also for some types of idiopathic AA.","PeriodicalId":82483,"journal":{"name":"Reviews in clinical and experimental hematology","volume":null,"pages":null},"PeriodicalIF":0.0000,"publicationDate":"2000-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1046/J.1468-0734.2000.00015.X","citationCount":"5","resultStr":"{\"title\":\"The Inherited Bone Marrow Failure Syndromes: Fanconi Anemia, Dyskeratosis Congenita and Diamond‐Blackfan Anemia\",\"authors\":\"I. Dokal\",\"doi\":\"10.1046/J.1468-0734.2000.00015.X\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"The inherited bone marrow (BM) failure syndromes, Fanconi anemia (FA), dyskeratosis congenita (DC) and Diamond–Blackfan anemia (DBA), are genetic disorders in which patients develop BM failure at a high frequency, usually in association with a number of somatic abnormalities. The recent identification of four FA genes (FANCA, FANCC, FANCF, FANCG), one DC gene (DKC1) and one DBA gene (RPS19) has confirmed their genetic heterogeneity and has provided new methods of diagnosis; this is particularly useful where clinical presentation is atypical, as in the Hoyeraal–Hreidarsson syndrome, a severe variant of X-linked DC. Recent data suggest that the FA proteins function in a novel cell pathway which has an important role in maintaining genomic stability; the DKC1 encoded nucleolar protein, dyskerin, is predicted to have an important role in ribosomal RNA (rRNA) processing and the RPS19 protein is a structural ribosomal protein. These syndromes therefore provide important information about novel cell pathways which may lead to a better understanding of normal hematopoiesis and of the poorly understood idiopathic aplastic anemia (AA). In turn, this may lead to new treatments, not only for FA, DC and DBA, but also for some types of idiopathic AA.\",\"PeriodicalId\":82483,\"journal\":{\"name\":\"Reviews in clinical and experimental hematology\",\"volume\":null,\"pages\":null},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2000-09-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://sci-hub-pdf.com/10.1046/J.1468-0734.2000.00015.X\",\"citationCount\":\"5\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Reviews in clinical and experimental hematology\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.1046/J.1468-0734.2000.00015.X\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"\",\"JCRName\":\"\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Reviews in clinical and experimental hematology","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.1046/J.1468-0734.2000.00015.X","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
引用次数: 5

摘要

遗传性骨髓衰竭综合征,范可尼贫血(FA),先天性角化不良(DC)和Diamond-Blackfan贫血(DBA),是一种遗传性疾病,患者发生骨髓衰竭的频率很高,通常与许多躯体异常有关。最近发现的4个FA基因(FANCA、FANCC、FANCF、FANCG)、1个DC基因(DKC1)和1个DBA基因(RPS19)证实了它们的遗传异质性,为诊断提供了新的方法;这在临床表现不典型的情况下特别有用,如Hoyeraal-Hreidarsson综合征,一种x连锁DC的严重变体。最近的数据表明,FA蛋白在一种新的细胞通路中起作用,在维持基因组稳定性方面起重要作用;DKC1编码的核核蛋白dyskerin预计在核糖体RNA (rRNA)加工中起重要作用,RPS19蛋白是一种结构核糖体蛋白。因此,这些综合征提供了关于新的细胞通路的重要信息,可能有助于更好地理解正常造血和知之甚少的特发性再生障碍性贫血(AA)。反过来,这可能会导致新的治疗方法,不仅对FA, DC和DBA,而且对某些类型的特发性AA。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
The Inherited Bone Marrow Failure Syndromes: Fanconi Anemia, Dyskeratosis Congenita and Diamond‐Blackfan Anemia
The inherited bone marrow (BM) failure syndromes, Fanconi anemia (FA), dyskeratosis congenita (DC) and Diamond–Blackfan anemia (DBA), are genetic disorders in which patients develop BM failure at a high frequency, usually in association with a number of somatic abnormalities. The recent identification of four FA genes (FANCA, FANCC, FANCF, FANCG), one DC gene (DKC1) and one DBA gene (RPS19) has confirmed their genetic heterogeneity and has provided new methods of diagnosis; this is particularly useful where clinical presentation is atypical, as in the Hoyeraal–Hreidarsson syndrome, a severe variant of X-linked DC. Recent data suggest that the FA proteins function in a novel cell pathway which has an important role in maintaining genomic stability; the DKC1 encoded nucleolar protein, dyskerin, is predicted to have an important role in ribosomal RNA (rRNA) processing and the RPS19 protein is a structural ribosomal protein. These syndromes therefore provide important information about novel cell pathways which may lead to a better understanding of normal hematopoiesis and of the poorly understood idiopathic aplastic anemia (AA). In turn, this may lead to new treatments, not only for FA, DC and DBA, but also for some types of idiopathic AA.
求助全文
通过发布文献求助,成功后即可免费获取论文全文。 去求助
来源期刊
自引率
0.00%
发文量
0
×
引用
GB/T 7714-2015
复制
MLA
复制
APA
复制
导出至
BibTeX EndNote RefMan NoteFirst NoteExpress
×
提示
您的信息不完整,为了账户安全,请先补充。
现在去补充
×
提示
您因"违规操作"
具体请查看互助需知
我知道了
×
提示
确定
请完成安全验证×
copy
已复制链接
快去分享给好友吧!
我知道了
右上角分享
点击右上角分享
0
联系我们:info@booksci.cn Book学术提供免费学术资源搜索服务,方便国内外学者检索中英文文献。致力于提供最便捷和优质的服务体验。 Copyright © 2023 布克学术 All rights reserved.
京ICP备2023020795号-1
ghs 京公网安备 11010802042870号
Book学术文献互助
Book学术文献互助群
群 号:481959085
Book学术官方微信