<i>KDM6B</i> Variants May Contribute to the Pathophysiology of Human Cerebral Folate Deficiency.

ABSTRACT: (1) Background: The genetic etiology of most patients with cerebral folate deficiency (CFD) remains poorly understood. KDM6B variants were reported to cause neurodevelopmental diseases; however, the association between KDM6B and CFD is unknown; (2) Methods: Exome sequencing (ES) was performed on 48 isolated CFD cases. The effect of KDM6B variants on KDM6B protein expression, Histone H3 lysine 27 epigenetic modification and FOLR1 expression were examined in vitro. For each patient, serum FOLR1 autoantibodies were measured; (3) Results: Six KDM6B variants were identified in five CFD patients, which accounts for 10% of our CFD cohort cases. Functional experiments indicated that these KDM6B variants decreased the amount of KDM6B protein, which resulted in ele

SUBMITTER: Han X 

PROVIDER: S-EPMC9855468 | biostudies-literature | 2022 Dec

REPOSITORIES: biostudies-literature