RESUMO
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 Assuntos
Regiões 3' não Traduzidas
, Doenças de Pequenos Vasos Cerebrais
, Colágeno Tipo IV
, Adulto
, Feminino
, Humanos
, Pessoa de Meia-Idade
, Regiões 3' não Traduzidas/genética
, Alelos
, Estudos de Casos e Controles
, Doenças de Pequenos Vasos Cerebrais/genética
, Colágeno Tipo IV/metabolismo
, Isoformas de Proteínas
, Mutagênese Insercional