De novo and inherited variants in DDX39B cause a novel neurodevelopmental syndrome.

ABSTRACT: DDX39B is a conserved member of the DEAD-box family of ATP-dependent RNA helicases, critical in mRNA metabolism across eukaryotes. DDX39B is also a core component of the TRanscription-EXport (TREX) super protein complex, and recent studies have highlighted the important role of its subunits in neurodevelopmental disorders. Here, we describe six individuals from five families, four harbouring de novo missense variants in DDX39B and one with an inherited splicing variant, presenting with variable developmental delay, congenital hypotonia, epilepsy, short stature, skeletal abnormalities, dysmorphic features and microcephaly in three patients. 3D molecular modelling predicts these variants would alter protein structure. In vitro studies using overexpression of HA-tagged human DDX39B protein in

SUBMITTER: Booth KTA 

PROVIDER: S-EPMC12316012 | biostudies-literature | 2025 Aug

REPOSITORIES: biostudies-literature