Prevalence and Characterization of <i>NOTCH2NLC</i> GGC Repeat Expansions in Koreans
Seungbok Lee, Seungbok Lee, Jihoon G. Yoon, Juhyeon Hong, T. Kim, Narae Kim, Jana Vandrovcová, Wai Yan Yau, Jaeso Cho, Sheehyun Kim, Man Jin Kim, Soo Yeon Kim, Soon‐Tae Lee, Soon‐Tae Lee, Kon Chu, Sang Kun Lee, Sang Kun Lee, Han‐Joon Kim, Jungmin Choi, Jangsup Moon, Jong‐Hee Chae
Abstract
Background and Objectives: -related disorders in Koreans. Methods: repeats by Cas9-mediated nanopore sequencing. In addition, we analyzed whole-genome sequencing data from 3,887 individuals in the Korea Biobank cohort to estimate the distribution of the repeat counts in Koreans and to identify putative patients with expanded alleles and neurologic phenotypes. Results: repeats within a family affected by pediatric-onset NIID. Discussion: repeats and the estimated prevalence of NIID in Koreans, providing valuable insights into the association between repeat counts and disease manifestations in diverse neurologic disorders.