Figure 1.

Genetic Investigations in a Large Family with Multiple IA-Affected Case Subjects

(A) Pedigree of family A showing the segregation pattern of the variant ANGPTL6 c.1378A>T. Filled boxes, empty boxes, and boxes with question marks indicate IA-affected case subjects, non-affected relatives, and individuals with unknown status; plus sign (+) indicates the presence of the ANGPTL6 variant; minus sign (−) indicates its absence; arrow indicates the index case subject; and asterisks indicate the individuals included in WES analysis.

(B) Digital substracted angiographies showing two intracranial aneurysms carried by the index case III-1, one on the middle cerebral artery (left) and one on the anterior cerebral artery (right).

(C) Summary of the filtering steps applied to genetic variants detected by WES in individuals III-1 and III-5. Abbreviations: MAF, minor allele frequency; IBD, identity by descent; LOF, loss of function.