Figure 1.

Mutations in CPSF1 identified in six unrelated probands with eoHM. Pedigrees are shown in the left column. Sequences from probands with mutations were shown in the middle column, and sequences from normal controls were shown in the right column. For families HM943 and HM949, the mutations were identified from the proband and his mother. All of the mutations in the six probands were described under each sequence according to the nomenclature recommended by the Human Genome Variation Society (HGVS).