Figure 1.

Family trees of the 19 RNF213 mutated probands. Families of the mutated probands (arrow) are numbered from M001 to M019. Squares: males, circles: females, rhombs: individuals for whom we do not have sex information. Black filled symbols: moyamoya affected individuals; age at first symptoms is indicated below the symbol (yo, years old). Empty symbols: relatives without clinical symptoms suggestive of moyamoya based on past medical history. Grey-filled symbols: relatives presenting with either (i) an early-onset (<50 yo) but poorly characterized cerebrovascular condition, or (ii) a well characterized steno-occlusion of ICA terminal parts and/or circle of Willis but without neoangiogenic deep vessels, whatever the age. ‡, early-onset (<50 yo) extra-cerebral arterial disease. Black diagonal lines: deceased individuals, age of death in years is indicated below the symbol and preceded by ‘d’. *, whole exome sequencing performed. The RNF213 variant(s) identified in each family is (are) indicated under the corresponding family tree, and the status of the proband and his/her relatives, when sequenced, are noted +/− (heterozygous) or −/− (not mutated). Not all non-informative individuals have been shown in the family trees.