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 Subject(s)
3' Untranslated Regions
, Cerebral Small Vessel Diseases
, Collagen Type IV
, Adult
, Female
, Humans
, Middle Aged
, 3' Untranslated Regions/genetics
, Alleles
, Case-Control Studies
, Cerebral Small Vessel Diseases/genetics
, Collagen Type IV/metabolism
, Protein Isoforms
, Mutagenesis, Insertional
