RP1 and retinitis pigmentosa: report of novel mutations and insight into mutational mechanism
RP1 and retinitis pigmentosa: report of novel mutations and insight into mutational mechanism
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DOI：
10.1136/bjophthalmol-2011-301134
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发表时间：
2012-07-01
影响因子：
4.1
通讯作者：
Alkuraya, Fowzan S.
中科院分区：
文献类型：
--
作者：
Al-Rashed, May;Abu Safieh, Leen;Alkuraya, Fowzan S.
背景/目的视网膜色素变性（Retinitispigmentosa，RP）是视网膜营养不良最常见的形式，通常以单基因性状遗传，但具有显著的遗传异质性。RP 1是RP中最早发现的疾病基因之一，已知该基因中的突变既有重复性又有显性作用，尽管突变机制仍不清楚。这项研究是我们正在进行的努力的一部分，沙特阿拉伯在分子水平上，纯合性定位和候选基因分析。结论这些新的和先前报道的RP 1突变的分布使得描述显性与隐性RP 1的统一突变机制具有挑战性。RP相关
Background/aim Retinitis pigmentosa (RP) is the commonest form of retinal dystrophy and is usually inherited as a monogenic trait but with remarkable genetic heterogeneity. RP1 is one of the earliest identified disease genes in RP with mutations in this gene known to act both recessively and dominantly although the mutational mechanism remains unclear. This study is part of our ongoing effort to characterise RP in Saudi Arabia at the molecular level.Methods Homozygosity mapping and candidate gene analysis.Results The authors have identified four novel mutations, all recessive, in a number of families with a typical RP phenotype.Conclusion The distribution of these novel and previously reported RP1 mutations makes it challenging to describe a unifying mutational mechanism for dominant versus recessive RP1-related RP.