OBJECTIVETo identify potential mutation of the colony stimulating factor 1 receptor gene (CSF1R) in a large Chinese family affected with hereditary diffuse leukoencephalopathy with spheroids (HDLS) and analyze the genotype-phenotype correlation.

METHODSThe proband was evaluated physically and radiologically to ascertain the HDLS phenotype. Genomic DNA was extracted from peripheral blood samples from family members. The coding region of the CSF1R gene was amplified with PCR and subjected to direct DNA sequencing.

RESULTSThere were 9 affected members (5 alive) in this five-generation family (1 member had died during the follow-up). A missense mutation c.2563C>A (p.P855T) of the CSF1R gene has been identified in the proband. The same mutation was identified in 3 affected and 1 unaffected members of the family.

CONCLUSIONThe family was consistent with autosomal dominant inheritance. CSF1R gene mutation is also a disease-causing mutation in Chinese patients.

Adult ; Asian Continental Ancestry Group ; genetics ; Base Sequence ; Child ; Female ; Genes, Dominant ; Humans ; Leukoencephalopathies ; genetics ; Male ; Middle Aged ; Molecular Sequence Data ; Mutation, Missense ; Pedigree ; Receptor, Macrophage Colony-Stimulating Factor ; genetics