期刊
JOURNAL OF GENETIC COUNSELING
卷 26, 期 1, 页码 21-31出版社
WILEY
DOI: 10.1007/s10897-016-0029-8
关键词
Intracranial berry aneurysms; Familial intracranial aneurysms; Linkage analysis; Genome-wide association study; Whole-exome sequencing; Autosomal dominant polycystic kidney disease; Ehlers-Danlos syndrome; Marfan syndrome; Neurofibromatosis type I; Loeys-Dietz syndrome
资金
- Brain Aneurysm Foundation's Cynthia Lynn Sherwin Chair of Research
- British Columbia Children's Hospital Foundation
Here we review the current understanding of the genetic architecture of intracranial berry aneurysms (IBA) to aid in the genetic counseling of patients at risk for this condition. The familial subtype of IBA, familial intracranial aneurysms (FIA), is associated with increased frequency of IBA, increased risk of rupture, and increased morbidity and mortality after rupture. Family history is the strongest predictor for the development of IBA. However, a genetic test is not yet available to assess risk within a family. Studies using linkage analysis, genome-wide association, and next-generation sequencing have found several candidate loci and genes associated with disease onset, but have not conclusively implicated a single gene. In addition to family history, a separate or concurrent diagnosis of autosomal dominant polycystic kidney disease is a strong genetic risk factor for IBA formation. We also discuss the relative risk for developing IBA in several Mendelian syndromes including vascular Ehlers-Danlos syndrome, Marfan syndrome, Neurofibromatosis Type I, and Loeys-Dietz syndrome.
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