Case report: Phenotype expansion and analysis of TRIO and CNKSR2 variations.

ABSTRACT:

Introduction

TRIO and CNKSR2 have been demonstrated as the important regulators of RAC1. TRIO is a guanine exchange factor (GEF) and promotes RAC1 activity by accelerating the GDP to GTP exchange. CNKSR2 is a scaffold and adaptor protein and helps to maintain Rac1 GTP/GDP levels at a concentration conducive for dendritic spines formation. Dysregulated RAC1 activity causes synaptic function defects leading to neurodevelopmental disorders (NDDs), which manifest as intellectual disability, learning difficulties, and language disorders.

Case presentation

Here, we reported two cases with TRIO variation from one family and three cases with CNKSR2 variation from another family. The family with TRIO variation carries a novel heterozygous frameshift variant c.350

SUBMITTER: Liu Y 

PROVIDER: S-EPMC9465251 | biostudies-literature | 2022

REPOSITORIES: biostudies-literature