LAUSR

Bipolar disorder (BD) has a substantial genetic component, but progress in identi fi cation of BD risk genes has been slow. MBD5 (methyl-CpG-binding domain protein 5) is a dosage-sensitive gene on 2q23.1 and is a member of a family of genes involved in DNA methylation and chromatin remodeling. 1,2 Disruption of MBD5 by deletions or other variants causes MBD5-associated neurodevelopmental disorder (MAND). The phenotypic spectrum of MAND includes intellectual disability, autism spectrum disorder, and epilepsy. 1 – 3 Detailed phenotypic evaluation revealed that 2 (9.1%) of 22 patients with MBD5 deletion had BD. 4 MBD5 is consid-ered to be a new candidate gene for BD. 5 We recently identi fi ed a new BD patient with MBD5 deletion. Here, we report the longitudinal clinical course of this patient. The patient is a 51-year-old Japanese female. She was born as the fi rst child of healthy parents and had no dysmorphic features. Her devel-opmental history was unremarkable: she did not have intellectual disabil-ity, autistic features, or seizures. Her grades at school were average, and she had a normal school life. After graduating from college, she worked for a while and got married in her mid-20s. After she gave birth to her fi rst child, she developed mild depressive symptoms including anhedonia, insomnia, and decreased appetite. These symptoms spontaneously resolved in several months without speci fi c treatment. After delivering her second child in her early 30s, she had more severe depressive symptoms including anhedonia, depressive mood, insomnia, diminished ability to think, decreased appetite, and recurrent suicidal ideation. She was diag- nosed with postpartum depression and hospitalized, and her symptoms improved with antidepressants. After that, she had no clinically signi fi cant depressive symptoms for 10 years.