Long-read sequencing identified repeat expansions in the 5'UTR of the NOTCH2NLC gene from Chinese patients with neuronal intranuclear inclusion disease.
Jianwen DengMuliang GuYu MiaoSheng YaoMin ZhuPu FangXuefan YuPidong LiYanan SuJian HuangJun ZhangJiaxi YuFan LiJing BaiWei SunYining HuangYun YuanDaojun HongZhaoxia WangPublished in: Journal of medical genetics (2019)
Our findings provided evidence that confirmed the GGC repeated expansion in the 5'UTR of the NOTCH2NLC gene is associated with the pathogenesis of NIID. Additionally, the GGC expansion was not only responsible for adult-onset patients, but also responsible for juvenile-onset patients.