Neurobehavioral phenotype of Kabuki syndrome: Anxiety is a common feature.

ABSTRACT: Kabuki syndrome (KS) is a Mendelian Disorder of the Epigenetic Machinery (MDEM) caused by loss of function variants in either of two genes involved in the regulation of histone methylation, KMT2D (34-76%) or KDM6A (9-13%). Previously, representative neurobehavioral deficits of KS were recapitulated in a mouse model, emphasizing the role of KMT2D in brain development, specifically in ongoing hippocampal neurogenesis in the granule cell layer of the dentate gyrus. Interestingly, anxiety, a phenotype that has a known association with decreased hippocampal neurogenesis, has been anecdotally reported in individuals with KS. In this study, anxiety and behavior were assessed in a cohort of 60 individuals with molecularly confirmed KS and 25 unaffected biological siblings, via

SUBMITTER: Kalinousky AJ 

PROVIDER: S-EPMC9582441 | biostudies-literature | 2022

REPOSITORIES: biostudies-literature