A novel mutation in CSF1R associated with hereditary diffuse leukoencephalopathy with spheroids.

Qin DuMinjin WangHongyu Zhou

Published in: Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology (2021)

Our findings identify a novel missense mutation, p.L755P, in the CSF1R gene within a Chinese family with autosomal-dominant HDLS and broaden the genetic spectrum of CSF1R-associated HDLS.

Keyphrases

genome wide
copy number
cerebrospinal fluid
intellectual disability
low grade
gene expression
autism spectrum disorder
genome wide identification