DNA was available for all numbered individuals depicted by a diamond with a central dot. Exome sequencing was performed on subjects framed with a red circle. Orange indicates a diagnosis of BD I, BD II, or BD NOS. Blue indicates other psychiatric phenotypes, comprising recurrent MDD, MDD single episode, and alcohol abuse. Unaffected individuals are indicated by white diamonds. To preserve the anonymity and confidentiality of the families, no information is shown concerning sex or mortality. (A) Pedigree of family 1, including four cases selected for exome sequencing. (B) Family 2 was divided in pedigrees 2, 3, and 4. A total of 11 cases from family 2 were selected for exome sequencing.