A novel homozygous mutation in PLA2G6 gene causes infantile neuroaxonal dystrophy in a case / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 64-67, 2016.
Article
in Chinese
| WPRIM
| ID: wpr-247734
ABSTRACT
<p><b>OBJECTIVE</b>To investigate the clinical symptoms and potential mutations in the PLA2G6 gene for a child with infantile neuroaxonal dystrophy.</p><p><b>METHODS</b>Clinical data of the patient was collected. The coding regions of PLA2G6 gene was subjected to Sanger sequencing using blood DNA from the patient and her parents.</p><p><b>RESULTS</b>The patient has presented with psychomotor regression and hypotonia, followed by development of tetraparesis. A novel homozygous mutation G68A in the PLA2G6 gene was found by DNA sequencing, while her parents were both heterozygous carriers.</p><p><b>CONCLUSION</b>The psychomotor regression and tetraparesis of the patient was caused by infantile neuroaxonal dystrophy due to a novel homozygous mutation in the PLA2G6 gene, which was inherited from her parents.</p>
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Brain
/
Diagnostic Imaging
/
DNA Mutational Analysis
/
Magnetic Resonance Imaging
/
Molecular Sequence Data
/
Base Sequence
/
Radiography
/
Neuroaxonal Dystrophies
/
Group VI Phospholipases A2
/
Genetics
Type of study:
Diagnostic study
/
Etiology study
Limits:
Adult
/
Child, preschool
/
Female
/
Humans
/
Male
Language:
Chinese
Journal:
Chinese Journal of Medical Genetics
Year:
2016
Type:
Article
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