Heterozygous and Homozygous RFC1 AAGGG Repeat Expansions are Common in Idiopathic Peripheral Neuropathy
Zitian Tang, Sinem Seleme Övünç, Ryo Iwase, Elle Mehinovic, Simone Thomas, Jenna Ulibarri, Zefan Li, Dustin Baldridge, Carlos Cruchaga, Matt Johnson, Jeffrey Milbrandt, Brian Christopher Callaghan, PNRR Study Group, Ahmet Höke, Peter K. Todd, Sheng Chih Jin
The paper identifies RFC1 AAGGG repeat expansions in idiopathic peripheral neuropathy patients using a new computational pipeline and finds both heterozygous and homozygous expansions contribute to the condition.
medRxiv · Apr 18, 2025 · PreprintGenetic & Genomic Medicine