Mutation analysis of a CN/AML pedigree. Squares indicate males and circles indicate females. Open symbols represent unaffected persons; the half-filled square represent the father with a mosaicism for ELANE mutation and mild neutropenia; closed symbols represent 2 persons affected by CN, both of whom also developed AML-M1. Inherited mutations in ELANE (p.Cys151Tyr) and RUNX1 (p.Met240Ile) as well as acquired RUNX1 (p.Arg139Gly; p.Arg139*) and CSF3R (p.Gln718X; p.Gln731*) mutations are indicated for each affected person.