Genetic origin of sporadic cases and RNA toxicity in neuronal intranuclear inclusion disease.
Jianwen DengBinbin ZhouJiaxi YuXiaochen HanJianhui FuXiaobin LiXufang XieMin ZhuYilei ZhengXueyu GuoPidong LiQingqing WangJing LiuWei ZhangYun YuanSheng YaoZhaoxia WangDaojun HongPublished in: Journal of medical genetics (2021)
Our study suggested the GGC repeat expansion in NOTCH2NLC might have a disease-causing number ranging from ~41 to ~300 repeats. The contraction of GGC repeat expansion in sperm could be a possible mechanism for the paternal-biased origin in some sporadic or recessive inherited NIID individuals. The toxic RNA gain-of-function mechanism was identified to be involved in the pathogenicity of this disease.