Connie T.R.M. Stumpel

TL;DR: A consistent loss-of-function effect of all tested de novo mutations on the Wnt pathway is demonstrated, and a differential effect by gender is shown, possibly reflects a dose-dependent effect of DDX3X expression in the context of functional mosaic females versus one-copy males, which reflects the complex biological nature of DDx3X mutations.

TL;DR: Common phenotypic features of POGZ individuals, including variable levels of developmental delay (DD) and more severe speech and language delay in comparison to the severity of motor delay and coordination issues, are defined.

TL;DR: It is indicated that de novo missense mutations in the MD of KIF1A cause a phenotype that overlaps with, while being more severe, than that associated with recessive mutation in the same gene.

TL;DR: Genetic analysis of children with severe obesity identifies mutations in the ADCY3 gene (encoding adenylate cyclase 3) that are rare in public databases and affect the functional activity of the protein, indicating that ADCY 3 is a potential pharmacological target for obesity treatment.

TL;DR: A novel cohort of five patients with de novo loss of function mutations affecting the histone methyltransferase KMT2C is presented, highlighting the clinical and molecular convergence between the K MT2 and EHMT protein families, which may contribute to a molecular network underlying a larger group of ID/ASD-related disorders.