Heterozygosity for neuronal ceroid lipofuscinosis predisposes to bipolar disorder.

ABSTRACT:

Objective

Bipolar disorder is a heritable chronic mental disorder that causes psychosocial impairment through depressive/manic episodes. Familial transmission of bipolar disorder does not follow simple Mendelian patterns of inheritance. The aim of this study was to describe a large family with 12 members affected by bipolar disorder. Whole-exome sequencing was performed for eight members, three of whom were diagnosed with bipolar disorder, and another reported as "borderline."

Methods

Whole-exome sequencing data allowed us to select variants that the affected members had in common, including and excluding the "borderline" individual with moderate anxiety and obsessive-compulsive traits.

Results

The results favored designating certain genes as predispositional to bipol

SUBMITTER: Privitera F 

PROVIDER: S-EPMC9976914 | biostudies-literature | 2023 Mar

REPOSITORIES: biostudies-literature