Article
Systematic rare variant analyses identify RAB32 as a susceptibility gene for familial Parkinson's disease.
Nature genetics - 1 Jul 2024
Hop Paul J, Lai Dongbing, Keagle Pamela J, Baron Desiree M, Kenna Brendan J, Kooyman Maarten, Shankaracharya, Halter Cheryl, Straniero Letizia, Asselta Rosanna, Bonvegna Salvatore, Soto-Beasley Alexandra I, Wszolek Zbigniew K, Uitti Ryan J, Isaias Ioannis Ugo, Pezzoli Gianni, Ticozzi Nicola, Ross Owen A, Veldink Jan H, Foroud Tatiana M, Kenna Kevin P, Landers John E
Abstract excerpt
Despite substantial progress, causal variants are identified only for a minority of familial Parkinson's disease (PD) cases, leaving high-risk pathogenic variants unidentified1,2. To identify such variants, we uniformly processed exome sequencing data of 2,184 index familial PD cases and 69,775 controls. Exome-wide analyses converged on RAB32 as a novel PD gene identifying c.213C > G/p.S71R as a high-risk variant...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.