期刊
HUMAN MOLECULAR GENETICS
卷 26, 期 R1, 页码 R2-R11出版社
OXFORD UNIV PRESS
DOI: 10.1093/hmg/ddx185
关键词
-
资金
- Fighting Blindness Ireland (FB Irl)
- Health Research Board of Ireland [HRA_POR-2013-376, HRA_POR-2015-1140]
- Medical Research Charities Group [MRCG-2012-4, MRCG-2013-8, MRCG-2016-14]
- Irish Research Council (IRC)
- Science Foundation Ireland [SFI 11/PI/1080]
- European Research Council [ERC-2012-AdG 322656-Oculus]
- Health Research Board (HRB) [HRA-POR-2015-1140, MRCG-2012-4, HRA-POR-2013-376] Funding Source: Health Research Board (HRB)
While individually classed as rare diseases, hereditary retinal degenerations (IRDs) are the major cause of registered visual handicap in the developed world. Given their hereditary nature, some degree of intergenic heterogeneity was expected, with genes segregating in autosomal dominant, recessive, X-linked recessive, and more rarely in digenic or mitochondrial modes. Today, it is recognized that IRDs, as a group, represent one of the most genetically diverse of hereditary conditions - at least 260 genes having been implicated, with 70 genes identified in the most common IRD, retinitis pigmentosa (RP). However, targeted sequencing studies of exons from known IRD genes have resulted in the identification of candidate mutations in only approximately 60% of IRD cases. Given recent advances in the development of gene-based medicines, characterization of IRD patient cohorts for known IRD genes and elucidation of the molecular pathologies of disease in those remaining unresolved cases has become an endeavor of the highest priority. Here, we provide an outline of progress in this area.
作者
我是这篇论文的作者
点击您的名字以认领此论文并将其添加到您的个人资料中。
推荐
暂无数据