Predictors for a dementia gene mutation based on gene-panel next-generation sequencing of a large dementia referral series.

ABSTRACT: Next-generation genetic sequencing (NGS) technologies facilitate the screening of multiple genes linked to neurodegenerative dementia, but there are few reports about their use in clinical practice. Which patients would most profit from testing, and information on the likelihood of discovery of a causal variant in a clinical syndrome, are conspicuously absent from the literature, mostly for a lack of large-scale studies. We applied a validated NGS dementia panel to 3241 patients with dementia and healthy aged controls; 13,152 variants were classified by likelihood of pathogenicity. We identified 354 deleterious variants (DV, 12.6% of patients); 39 were novel DVs. Age at clinical onset, clinical syndrome and family history each strongly predict the likelihood of finding a DV, but healthcare

SUBMITTER: Koriath C 

PROVIDER: S-EPMC6330090 | biostudies-literature | 2020 Dec

REPOSITORIES: biostudies-literature