title: [Analysis of CSF1R gene mutation in a Chinese family with hereditary diffuse leukoencephalopathy with neuroaxonal spheroids].
abstract: OBJECTIVE
  To 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.
  
  
  METHODS
  The 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.
  
  
  RESULTS
  There 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.
  
  
  CONCLUSIONS
  The family was consistent with autosomal dominant inheritance. CSF1R gene mutation is also a disease-causing mutation in Chinese patients.
authors: Department of Rehabilitation, Affiliated Nanjing Brain Hospital, Nanjing Medical University, Nanjing, Jiangsu 210029, P.R. China. neurojun@126.com.
authors: Xinxin
authors: X
authors: Cheng
authors: Wei
authors: W
authors: Shen
authors: Haiqiang
authors: H
authors: Zou
authors: Lu
authors: L
authors: Shen
authors: Xiaohua
authors: X
authors: Gu
authors: Danqing
authors: D
authors: Huang
authors: Yi
authors: Y
authors: Sun
authors: Bianrong
authors: B
authors: Wang
authors: Qi
authors: Q
authors: Tian
authors: Jun
authors: J
authors: Xu
mesh_terms: D000328:Adult; D044466:Asian People / Q000235:genetics*; D001483:Base Sequence; D002648:Child; D005260:Female; D005799:Genes, Dominant; D006801:Humans; D056784:Leukoencephalopathies / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D008969:Molecular Sequence Data; D020125:Mutation, Missense; D010375:Pedigree; D016186:Receptor, Macrophage Colony-Stimulating Factor / Q000235:genetics*
chemical_list: D016186:Receptor, Macrophage Colony-Stimulating Factor