Fig. 1.

Genetic findings in the study participants. a Mutations in CHAMP1 aligned on the protein, mapped to NM_001164144.1. Blue text represents frameshift variants and green text represents nonsense variants. Orange bars represent zinc finger domains. b Deletions of the CHAMP1 gene. Alternating black and gray bars indicate chromosome bands, black bars represent the coordinates of participant deletions. OMIM genes are listed below participant deletions, green text indicates the gene can be disease causing