Figure 4

PIGG loss of function variants. (A) The five loss of function variants reported or investigated here are shown. Three causes a frameshift and premature stop codon, one causes a deletion and insertion, and one introduces a stop codon. (B) PIGG loss of function variants found in gnomAD cause frameshift and premature stop codons (blue) or directly introduce a stop (red). Previously reported loss of function variants associated with neurologic phenotypes are shown underlined, including variants that alter splicing (purple) and missense variants (green).