A Review of the Genetics of Intracranial Berry Aneurysms and Implications for Genetic Counseling

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• 作者：Emma Hitchcock ; William T. Gibson
• 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
• 刊名：Journal of Genetic Counseling
• 出版年：2017
• 出版时间：February 2017
• 年：2017
• 卷：26
• 期：1
• 页码：21-31
• 全文大小：551KB
• 刊物类别：Biomedical and Life Sciences
• 刊物主题：Human Genetics; Public Health; Clinical Psychology; Gynecology; Ethics;
• 出版者：Springer US
• ISSN：1573-3599
• 卷排序：26

文摘

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.