MAPKAPK5, also known as MAPK-activated protein kinase 5, is an essential enzyme for diverse cellular processes. It is involved in regulating various pathways, and dysregulation of these pathways can lead to the development of different diseases [1].

Loss-of-function studies in humans have shown that biallelic MAPKAPK5 pathogenic variants are associated with a distinct syndromic neurodevelopmental disorder. Affected individuals exhibit severe global developmental delay, intellectual disability, characteristic facial morphology, brachycephaly, digital anomalies, hair and nail defects, and neuroradiological findings such as cerebellar hypoplasia and hypomyelination, along with variable vision and hearing impairment [1,2].

In conclusion, MAPKAPK5 is crucial for normal cellular and developmental processes. The discovery of its role in a syndromic neurodevelopmental disorder through human-based loss-of-function studies provides important insights into the gene's function in normal development and disease pathogenesis. Understanding MAPKAPK5 may offer new directions for diagnosing and treating related neurodevelopmental disorders.