Article
Patients with biallelic GGC repeat expansions in NOTCH2NLC exhibiting a typical neuronal intranuclear inclusion disease phenotype.
Genomics - 1 Sept 2022
Kameyama Shinichi, Mizuguchi Takeshi, Doi Hiroshi, Koyano Shigeru, Okubo Masaki, Tada Mikiko, Shimizu Hiroshi, Fukuda Hiromi, Tsuchida Naomi, Uchiyama Yuri, Koshimizu Eriko, Hamanaka Kohei, Fujita Atsushi, Misawa Kazuharu, Miyatake Satoko, Kanai Kazuaki, Tanaka Fumiaki, Matsumoto Naomichi
Abstract excerpt
We report two patients with autosomal dominant neuronal intranuclear inclusion disease (NIID) harboring the biallelic GGC repeat expansion in NOTCH2NLC to uncover the impact of repeat expansion zygosity on the clinical phenotype. The zygosity of the entire NOTCH2NLC GGC repeat expansion and DNA methylation were comprehensively evaluated using fluorescent amplicon length PCR (AL-PCR), Southern blotting and...
Topics
- Humans
- Intranuclear Inclusion Bodies
- Neurodegenerative Diseases
- Phenotype
- Receptor, Notch2