An AluYa5 Insertion in the 3'UTR of COL4A1 and Cerebral Small Vessel Disease.

ABSTRACT:

Importance

Cerebral small vessel diseases (CSVDs) account for one-fifth of stroke cases. Numerous familial cases remain unresolved after routine screening of known CSVD genes.

Objective

To identify novel genes and mechanisms associated with familial CSVD.

Design, setting, and participants

This 2-stage study involved linkage analysis and a case-control study; linkage analysis and whole exome and genome sequencing were used to identify candidate gene variants in 2 large families with CSVD (9 patients with CSVD). Then, a case-control analysis was conducted on 246 unrelated probands, including probands from these 2 families and 244 additional probands. All probands (clinical onset

SUBMITTER: Aloui C 

PROVIDER: S-EPMC11024774 | biostudies-literature | 2024 Apr

REPOSITORIES: biostudies-literature