MKL1 mutation and family pedigree. (A) MKL1 protein structure; the location of the homozygous frameshift mutation leading to a premature stop codon is indicated (arrow) (adapted from SMART,⁶⁸  with permission). (B) Absence of MKL1 in the patient’s neutrophils was confirmed by western blotting. GAPDH was used as loading control. (C) Pedigree of the family carrying the MKL1 mutation. Double lines indicate consanguinity; circle indicates female; square indicates male; triangle indicates miscarriage; diagonal through symbol indicates deceased; black symbols indicate clinically affected homozygous individual; black dot in symbol indicates clinically unaffected heterozygous individual. C, control; GAPDH, glyceraldehyde-3-phosphate dehydrogenase; P, patient.