Topic: PAK1

RAC1 encodes a Rho family small GTPase that regulates actin cytoskeletal reorganization and intracellular signaling pathways. Variants in RAC1 can cause a phenotypically heterogeneous neurodevelopmental disorder with brain size anomalies and facial dysmorphism. Pathophysiological mechanism of this genetic disorder remains to be clarified. We investigated an early adolescent male with global developmental delay, intellectual disability, and secondary microcephaly. The novel de novo variant (NM_006908.5): c.92A>G, p.(E31G) in RAC1 was identified by whole exome sequencing. We then examined the

Neurodevelopmental disorders (NDDs) are prevalent neurodevelopmental conditions which affected 3% of general population without effective treatment so far. Among the NDD candidate genes, mutations in PTCHD1 (Patched domain containing 1) gene have been described in male patients with X-linked Intellectual Disability (ID) and Autism Spectrum Disorders (ASD). The aim of the study is deciphering the molecular and cellular role of PTCHD1 in brain development and understanding its pathological impact leading to NDD.To dissect the molecular mechanisms allowing PTCHD1 receptor interactions at synapse,

Neurodevelopmental disorders (NDDs), such as intellectual disability (ID), can arise from genetic and environmental factors. PAK3, a gene crucial for brain development and synaptic plasticity, is involved in X-linked ID. Mutations in the PAK3 gene may also lead to autistic traits, epilepsy and other neurological symptoms. The most severe cases result from missense mutations in the kinase domain, rendering the protein stable but inactive.Our aim is to understand the specific effects of severe PAK3 variants on brain structure and function and assess the precise mechanism underlying severe PAK3-l