Figure 1.

Novel biallelic CARMIL2 variants identified in four patients from three families. (A) Family pedigree and segregation analysis of the three kindreds. As for Family A, both parents and their second son, who had myoclonic epilepsy and attention deficit hyperactivity disorder, were heterozygous. (B) Colonoscopy image of Patient 1, showing only a mild patchy loss of vascular pattern throughout the colon. (C) Histopathologic findings in a colonic biopsy sample from Patient 1, showing epithelioid granulomas in the lamina propria (Hematoxylin–Eosin × 400).