Pathogenicity analysis and a novel case report of intronic mutations in CSF1R gene

Colony-stimulating factor 1 receptor-associated leukoencephalopathy (CSF1R-related leukoencephalopathy) is a genetic disorder mutated in a single allele. It is characterized by an adult-onset along with predominantly cognitive impairment, accompanied by neuropsychiatric symptoms as well as motor symptoms such as Parkinsonism. In the current study, we confirmed a case of CSF1R-related leukoencephalopathy pedigree by genetic screening, and a new intron c. 1858 + 5 G > A mutation was detected in affected patients. After reviewing all previous reports of introns, we found that symptoms and clinical manifestations of the patients were typical and met the features of previous intron reports.