Hypomethylation of contracted D4Z4 repeats in facioscapulohumeral muscular dystrophy
Yosuke Hiramuki, Yuriko Kure, Yoshihiko Saito, Megumu Ogawa, Keiko Ishikawa, Madoka Mori‐Yoshimura, Yasushi Oya, Yuji Takahashi, Dae‐Seong Kim, Noriko Arai, Chiaki Mori, Tsuyoshi Matsumura, Tadanori Hamano, Kenichiro Nakamura, Koji Ikezoe, , Ichizo Nishino
This study uses Nanopore CRISPR/Cas9-targeted resequencing to diagnose FSHD by detecting D4Z4 repeat length and methylation status, finding significant hypomethylation in contracted repeats and its correlation with disease phenotype.
medRxiv · Jun 24, 2022 · PreprintGenetic & Genomic Medicine