Discovery of a family with a novel CEBPA germ line mutation. (A) Sequencing chromatogram demonstrating the germ line CEBPA mutation (c.442G>T) present in our patient. Sanger sequencing was performed on genomic DNA isolated from cultured skin fibroblasts taken from our patient while she was in CR. (B) Location of the germ line CEBPA mutation (p.E148*) discovered here relative to the p30 start codon. This mutation is unusual relative to the majority of previously discovered germ line CEBPA mutations in that it is downstream of the p30 start codon. (C) Pedigree of family members showing affected patient (A.II.1) and unaffected carriers (A.I.1, A.II.3).