Novel c.2654+1G>A Mutation in the CSF1R Gene in a Family with CSF1R-Microglial Encephalopathy

The colony-stimulating factor-1 receptor (CSF1R) is a transmembrane tyrosine kinase receptor that is mainly expressed in the brain-resident microglia. Thus, microglial dysfunction due to CSF1R mutation may play a primary and pivotal role in the pathogenesis of CSF1R-microglial encephalopathy. Neither the functional consequences of all known CSF1R mutations nor the full genetic spectrum of mutations causing CSF1R-microglial encephalopathy have been fully elucidated. We aimed to describe a novel heterozygous splicing variant of the CSF1R gene that caused CSF1R-microglial encephalopathy in a Han Chinese family.