Neuromuscular Diseases Research Section, Laboratory of Neurogenetics, National Institute on Aging, NIH, Bethesda, MD 20892, USA; Reta Lila Weston Institute, UCL Queen Square Institute of Neurology, University College London, London WC1N 1PJ, UK.
Neuromuscular Diseases Research Section, Laboratory of Neurogenetics, National Institute on Aging, NIH, Bethesda, MD 20892, USA.
J Neurol Sci. 2021 Nov 15;430:118061. doi: 10.1016/j.jns.2021.118061. Epub 2021 Aug 31.
A homozygous AAGGG repeat expansion within the RFC1 gene was recently described as a common cause of CANVAS syndrome. We examined 1069 sporadic ALS patients for the presence of this repeat expansion. We did not discover any carriers of the homozygous AAGGG expansion in our ALS cohort, indicating that this form of RFC1 repeat expansions is not a common cause of sporadic ALS. However, our study did identify a novel repeat conformation and further expanded on the highly polymorphic nature of the RFC1 locus.
一种位于 RFC1 基因内的 AAGGG 重复扩增最近被描述为 CANVAS 综合征的常见病因。我们检测了 1069 名散发型 ALS 患者中该重复扩增的存在情况。我们在 ALS 队列中未发现任何纯合 AAGGG 扩增的携带者，表明这种形式的 RFC1 重复扩增不是散发型 ALS 的常见病因。然而，我们的研究确实确定了一种新的重复构象，并进一步扩展了 RFC1 基因座的高度多态性。
