AI Article Synopsis
- Rupture of intracranial aneurysms causes a severe stroke known as aneurysmal subarachnoid hemorrhage, with many genetic factors behind their development still unclear.* -
- Researchers investigated three large Dutch families with multiple IA cases and discovered six rare damaging genetic variants associated with IA in one family.* -
- Although the identified variants did not correlate with IA status in a larger patient cohort, genes FMNL2 and TBC1D2 were highlighted for their potential significance in understanding IA development.*
Article Abstract
Rupture of an intracranial aneurysm (IA) leads to aneurysmal subarachnoid haemorrhage (ASAH), a severe type of stroke. Some rare variants that cause IA in families have been identified, but still, the majority of genetic causes, as well as the biological mechanisms of IA development and rupture, remain unknown. We aimed to identify rare, damaging variants for IA in three large Dutch families with multiple affected members with IA (N = 9, 11, and 6). By combining linkage analysis and genome sequencing (GS), we identified six rare and damaging variants for which all cases within one of the families were heterozygous. These variants were p.Tyr87Cys in SYCP1, p.Phe1077Leu in FMNL2, p.Thr754Lys in TBC1D2, p.Arg321His in ZNF782, p.Arg979Trp in CCDC180, and p.Val125Met in NCBP1. None of the variants showed association with IA status in a large cohort of 937 patients from the general IA patient population and 1046 controls. Gene expression in IA and cerebral artery tissue further prioritized FMNL2 and TBC1D2 as potential important players in IA pathophysiology. Further studies are needed to characterize the functional consequences of the identified variants and their role in the biological mechanisms of IA.
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| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9259640 | PMC |
| http://dx.doi.org/10.1038/s41431-022-01059-0 | DOI Listing |
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