Fig 1.

Pedigrees of families A-D presenting with a CPN deficiency. Results of next-generation sequencing and Sanger sequencing analyses. The CPN1 variants c.533G/A, c.582G/A, c.734C>T, and c.1299C>T and additional variants cosegregating with clinical symptoms are presented. Filled symbol: individual affected by recurrent angioedema possibly associated with urticarial lesions; empty symbol: asymptomatic subject; dashed symbol: noninvestigated family member. Arrows indicate the probands of investigated families.