原さんたちの、SETD1A in 双極症レターがPsychiatry and Clinical Neurosciencesに掲載されました。
A case of bipolar I disorder with a loss-of-function variant of schizophrenia risk gene SETD1A: possible expansion of the relevant clinical spectrum supported by a meta-analysis
Tomonori Hara MD, PhD, An-a Kazuno MS, Tomoko Toyota MD, PhD, Junko Ueda PhD, Takehiko Shuno MD, PhD, Jun Mukai MD, PhD, Taka-Aki Sato PhD, Naomichi Matsumoto MD, PhD, Takeo Yoshikawa MD, PhD, Atsushi Takata MD, PhD
Psychiatry and Clinical Neurosciences
https://doi.org/10.1111/pcn.13669
“the clinical phenotypes of SETD1A LoF carriers are highly variable and are possibly influenced by a range of genetic and/or environmental factors… This may also imply that severe symptoms from early childhood in the cases of SETD1A haploinsufficiency might be prevented by some means.”