Work

De Novo Gene Variants and Familial Bipolar Disorder

Year: 2020

Type: article

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.

Source: JAMA Network Open

DOI: 10.1001/jamanetworkopen.2020.3382