Analysis of CSF1R gene mutation in a Chinese family with hereditary diffuse leukoencephalopathy with neuroaxonal spheroids / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
; (6): 208-212, 2015.
Article
in Zh
| WPRIM
| ID: wpr-239503
Responsible library:
WPRO
ABSTRACT
<p><b>OBJECTIVE</b>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.</p><p><b>METHODS</b>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.</p><p><b>RESULTS</b>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.</p><p><b>CONCLUSION</b>The family was consistent with autosomal dominant inheritance. CSF1R gene mutation is also a disease-causing mutation in Chinese patients.</p>
Full text:
1
Index:
WPRIM
Main subject:
Pedigree
/
Molecular Sequence Data
/
Base Sequence
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Receptor, Macrophage Colony-Stimulating Factor
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Mutation, Missense
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Asian People
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Leukoencephalopathies
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Genes, Dominant
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Genetics
Type of study:
Prognostic_studies
Limits:
Adult
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Child
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Female
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Humans
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Male
Language:
Zh
Journal:
Chinese Journal of Medical Genetics
Year:
2015
Type:
Article