[A novel homozygous mutation in PLA2G6 gene causes infantile neuroaxonal dystrophy in a case]
Jinling Wang1, Wei Wu, Xuefeng Chen
1Department of Endocrinology, Children's Hospital, Zhejiang University School of Medicine, Hangzhou, Zhejiang 310003, China. dgpxlx@163.com.
Objective:
To investigate the clinical symptoms and potential mutations in the PLA2G6 gene for a child with infantile neuroaxonal dystrophy.
Methods:
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.
Results:
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.
Conclusion:
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.
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