Rare Sequence Variation Underlying Suspected Familial Cerebral Small-Vessel Disease.

ABSTRACT:

Background

Cerebral small-vessel disease (cSVD) is the leading monogenic cause of stroke. Despite genetic screening in routine diagnosis, many cases remain without a known causative variant. Using a cohort with suspected familial cSVD and whole-genome sequencing, we screened for variants in genes associated with monogenic cSVD and searched for novel variants associated with the disease.

Methods and results

Rare variants were identified in whole-genome sequencing data from the NBR (National Institute for Health Research BioResource Rare Disease) study. Pathogenic variants in known monogenic cSVD genes were identified. Gene-based burden tests and family analysis were performed to identify novel variants associated with familial cSVD. A total of 257 suspected cSVD cases (mean ±

SUBMITTER: Cho BPH 

PROVIDER: S-EPMC11964016 | biostudies-literature | 2024 Aug

REPOSITORIES: biostudies-literature