Ontology highlight
ABSTRACT:
SUBMITTER: Sailani MR
PROVIDER: S-EPMC7529431 | biostudies-literature | 2020 Sep
REPOSITORIES: biostudies-literature
PLoS genetics 20200921 9
Essential tremor (ET) is the most common adult-onset movement disorder. In the present study, we performed whole exome sequencing of a large ET-affected family (10 affected and 6 un-affected family members) and identified a TUB p.V431I variant (rs75594955) segregating in a manner consistent with autosomal-dominant inheritance. Subsequent targeted re-sequencing of TUB in 820 unrelated individuals with sporadic ET and 630 controls revealed significant enrichment of rare nonsynonymous TUB variants ...[more]