A Review of the Genetics of Intracranial Berry Aneurysms and Implications for Genetic CounselingReportar como inadecuado

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Journal of Genetic Counseling

, Volume 26, Issue 1, pp 21–31

First Online: 14 October 2016Received: 16 May 2016Accepted: 26 September 2016DOI: 10.1007-s10897-016-0029-8

Cite this article as: Hitchcock, E. & Gibson, W.T. J Genet Counsel 2017 26: 21. doi:10.1007-s10897-016-0029-8


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.

KeywordsIntracranial 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  Download fulltext PDF

Autor: Emma Hitchcock - William T. Gibson

Fuente: https://link.springer.com/

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