Functional characterization of a novel CSF1R mutation causing hereditary diffuse leukoencephalopathy with spheroids.

ABSTRACT:

Background

Colony-stimulating factor 1 receptor is a tyrosine kinase transmembrane protein that mediates proliferation, differentiation, and survival of monocytes/macrophages and microglia. CSF1R gene mutations cause hereditary diffuse leukoencephalopathy with spheroids (HDLS), an autosomal-dominantly inherited microgliopathy, leading to early onset dementia with high lethality.

Methods

By interdisciplinary assessment of a complex neuropsychiatric condition in a 44-year old female patient, we narrowed down the genetic diagnostic to CSF1R gene sequencing. Flow cytometric analyses of uncultivated peripheral blood monocytes were conducted sequentially to measure the cell surface CSF1 receptor and autophosphorylation levels. Monocyte subpopulations were monitored during disease

SUBMITTER: Kraya T 

PROVIDER: S-EPMC6465730 | biostudies-literature | 2019 Apr

REPOSITORIES: biostudies-literature