Bainbridge-Ropers Syndrome

Bainbridge-Ropers syndrome (BRPS) is a rare genetic disorder that results from a functional de novo mutation in an additional sex combs-like 3 (ASXL3) gene. The mutation usually occurs in chromosome 18q12 in the ASLX3 gene (615115). It is characterized by severe abnormalities in neuro-psychomotor development, postnatal growth delays, feeding problems, intellectual disabilities and retardation, skeletal abnormalities with dysmorphic facial features, hypotonia, and poor or absent speech (Kuechler et al. 2017). It also includes a characteristic of autism spectrum disorder. ASLX3 gene code ASLX3 protein, which plays a role in the development of the brain. ASXL3 protein is a part of the deubiquitinase enzyme, which catalyzes the mono-ubiquitin on histone H2A. Modifications in chromatin structure have a crucial role in neuronal development (Yang et al. 2020; Srivastava et al. 2016).