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- Title
A recurrent pathogenic splicing mutation of Colony-stimulating factor 1 receptor is responsible for a Chinese family with diffuse leukoencephalopathy.
- Authors
Zhu, L; Zhang, W; Hu, C -F; Fan, L -L; Liu, Y -H
- Abstract
This article discusses a study that identified a recurrent splicing mutation (c.2442 + 5G>A) of the Colony-stimulating factor 1 receptor (CSF1R) gene in a Chinese family with leukoencephalopathy. The mutation was found to result in intron 12 not being cut, leading to a premature stop codon in the CSF1R gene. This mutation has previously been reported in a Japanese patient with diffuse leukoencephalopathy. The study confirms the pathogenicity of this mutation and provides further understanding of the genetic profile and clinical diagnosis of patients with leukoencephalopathy.
- Subjects
MACROPHAGE colony-stimulating factor; LEUKOENCEPHALOPATHIES; GENETIC mutation
- Publication
QJM: An International Journal of Medicine, 2024, Vol 117, Issue 3, p233
- ISSN
1460-2725
- Publication type
Article
- DOI
10.1093/qjmed/hcad274