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. Author manuscript; available in PMC: 2015 Nov 1.
Published in final edited form as: Stroke. 2014 Oct 2;45(11):3200–3207. doi: 10.1161/STROKEAHA.114.006244

Figure 2. Segregation of RNF213 alterations with MMD and other vascular diseases in MMD families.

Figure 2

A. Pedigrees of 9 families of various Asian ethnicities with the RNF213 p.R4810K variant. The variant segregates with MMD in 2 families (MM121 and MM056). Reduced penetrance for MMD in individuals with the RNF213 p.R4810K is also demonstrated. B. Pedigrees of 11 families with other RNF213 rare variants. The p.D4013N alteration segregates with MMD, premature CAD, stroke and presentation with subarachnoid hemorrhage (SAH) in a large European American family (MM096). The p.R3922Q variant does not segregate with MMD in MM006. Disease and mutation status are indicated in the figure key. Circles represent females, squares represent males, and arrowheads indicate the proband in the family. A diagonal line through a circle or square indicates that the individual is deceased, with their age of death shown below. Age at onset of the vascular disease (dx) is shown below each individual when applicable; each disease is coded and correlates with the figure key. Ethnicities are indicated above each pedigree. The superscript X (X) indicates families in which RNF213 variants were identified through exome sequencing.