Ontology highlight
ABSTRACT:
SUBMITTER: McAllister B
PROVIDER: S-EPMC8986535 | biostudies-literature | 2022 Apr
REPOSITORIES: biostudies-literature
McAllister Branduff B Donaldson Jasmine J Binda Caroline S CS Powell Sophie S Chughtai Uroosa U Edwards Gareth G Stone Joseph J Lobanov Sergey S Elliston Linda L Schuhmacher Laura-Nadine LN Rees Elliott E Menzies Georgina G Ciosi Marc M Maxwell Alastair A Chao Michael J MJ Hong Eun Pyo EP Lucente Diane D Wheeler Vanessa V Lee Jong-Min JM MacDonald Marcy E ME Long Jeffrey D JD Aylward Elizabeth H EH Landwehrmeyer G Bernhard GB Rosser Anne E AE Paulsen Jane S JS Williams Nigel M NM Gusella James F JF Monckton Darren G DG Allen Nicholas D ND Holmans Peter P Jones Lesley L Massey Thomas H TH
Nature neuroscience 20220404 4
The age at onset of motor symptoms in Huntington's disease (HD) is driven by HTT CAG repeat length but modified by other genes. In this study, we used exome sequencing of 683 patients with HD with extremes of onset or phenotype relative to CAG length to identify rare variants associated with clinical effect. We discovered damaging coding variants in candidate modifier genes identified in previous genome-wide association studies associated with altered HD onset or severity. Variants in FAN1 clust ...[more]