Clinical and genetic analyses of patients with colony-stimulating factor 1 receptor-related disorder caused by compound heterozygous mutations in the colony-stimulating factor 1 receptor gene
10.3760/cma.j.cn113694-20250821-00494
- VernacularTitle:集落刺激因子1受体基因复合杂合突变导致的集落刺激因子1受体相关疾病患者临床及遗传学分析
- Author:
Qianqian WANG
1
;
Xiaomei ZHANG
;
Rui MIAO
Author Information
1. 首都医科大学宣武医院神经内科，北京 100053
- Publication Type:Journal Article
- Keywords:
Receptors, colony-stimulating factor;
Genes;
Mutation;
Cognition disorders;
Leukoencephalopathy
- From:
Chinese Journal of Neurology
2025;58(12):1301-1310
- CountryChina
- Language:Chinese
-
Abstract:
Objective:To investigate the clinical, imaging, and genetic characteristics of patients with colony-stimulating factor 1 receptor (CSF1R)-related disorder (CRD).Methods:Clinical and genetic data from a patient with CRD caused by CSF1R gene variants, who was admitted to Xuanwu Hospital, Capital Medical University in June 2024, were collected. A review of previous relevant literature was conducted to summarize the clinical, imaging, and genetic features of this disease. Results:The patient was a 30-year-old male presenting with cognitive impairment and motor dysfunction. Cranial magnetic resonance imaging revealed lesions in the bilateral periventricular areas, corpus callosum, corona radiata, centrum semiovale, and the white matter of the frontal and parietal lobes. Whole-exome sequencing identified compound heterozygous CSF1R gene variants, specifically a heterozygous deletion in exons 1-2 and a c.2906_2909dup(p.Phe971SerfsTer7) mutation in exon 21. A literature review identified 30 previously reported genetically confirmed CRD cases, with a mean age of onset of 42.9 years and a male-to-female ratio of 1∶3.2. The most common symptom was cognitive impairment (83.3%, 25/30), followed by psychiatric symptoms (43.3%, 13/30), parkinsonism (23.3%, 7/30), gait disturbance (23.3%, 7/30), and language impairment (20.0%, 6/30). Other symptoms included seizures, limb weakness, incontinence, dysarthria, and apraxia, etc. Conclusions:CRD caused by CSF1R gene variants is a rare disease whose most common manifestation is cognitive impairment. Key imaging indicators for early identification include white matter lesions and involvement of the corpus callosum. Genetic testing is the preferred non-invasive diagnostic method for this disease.
