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758CT (p.Pro253Leu) in AFF4 was identified by whole exome sequencing. No additional candidate variants for her vascular manifestation were found except a susceptibility variant, c.14429GA (p.Arg4810Lys) in RNF213, inherited from asymptomatic mother. This is the first case of CHOPS syndrome accompanied by systemic vasculopathy. More clinical observations and functional studies are required to clarify this association. This is the first case of CHOPS syndrome accompanied by systemic vasculopathy. More clinical observations and fun