Genetic Primary Microcephalies: When Centrosome Dysfunction Dictates Brain and Body Size.

ABSTRACT: Primary microcephalies (PMs) are defects in brain growth that are detectable at or before birth and are responsible for neurodevelopmental disorders. Most are caused by biallelic or, more rarely, dominant mutations in one of the likely hundreds of genes encoding PM proteins, i.e., ubiquitous centrosome or microtubule-associated proteins required for the division of neural progenitor cells in the embryonic brain. Here, we provide an overview of the different types of PMs, i.e., isolated PMs with or without malformations of cortical development and PMs associated with short stature (microcephalic dwarfism) or sensorineural disorders. We present an overview of the genetic, developmental, neurological, and cognitive aspects characterizing the most representative PMs. The analysis of phenotypic

SUBMITTER: Farcy S 

PROVIDER: S-EPMC10340463 | biostudies-literature | 2023 Jul

REPOSITORIES: biostudies-literature