De Novo Gene Variants and Familial Bipolar Disorder
Claudio Toma, Alex D. Shaw, Bronwyn J. Overs, Philip B. Mitchell, Peter R. Schofield, Antony A. Cooper, Janice M. Fullerton
Abstract
The detection of de novo variants (DNVs) by next-generation sequencing has facilitated the identification of candidate genes in psychiatric disorders.1,2 Spontaneous DNV mutations are estimated to explain approximately 5% of genetic liability in autism and schizophrenia.1,2 In bipolar disorder (BD), common genetic variants explain approximately 30% of the heritability,3 and rare inherited variants also contribute to disease risk.4 However, the involvement of DNVs in BD is largely unexplored, with only 1 independent study5 reporting 71 DNVs from 79 singleton BD families. We present a DNV study in 18 multiplex bipolar families, combining 32 individuals previously reported4 with 29 additional participants.