Identification of the pathogenic mechanisms of SIN3A haploinsufficiency in Witteveen-Kolk syndrome
Sara Sebastiani, Lotte Wekking, Jean C. Corbally, Anouk Klein Kranenbarg, Maggie M.K. Wong, Jet Coenen-van der Spek, Daan F.B. Roelofs, Simon E. Fisher, Tjitske Kleefstra, Sharon M. Kolk · FENS Forum 2024
Neurodevelopmental disorders (NDDs) are a heterogeneous group of syndromes that typically manifest early in development. NDDs are characterized by intellectual disability/developmental delay (ID/DD) and resulting cognitive deficits. In our studies, we focus on Witteveen-Kolk Syndrome (WitKoS) characterized by mild ID, growth and feeding difficulties, autism spectrum disorder (ASD) and attention-deficit/hyperactivity disorder (ADHD) and some types of language developmental delay (Balasubramanian et al., 2021). This syndrome is caused by heterozygous loss-of-function mutations in SIN3A, a gene t