A novel homozygous mutation in PLA2G6 gene causes infantile neuroaxonal dystrophy in a case.
- Author:
Jinling WANG
1
;
Wei WU
;
Xuefeng CHEN
;
Li ZHANG
;
Xiumin WANG
;
Guanping DONG
Author Information
- Publication Type:Case Reports
- MeSH: Adult; Base Sequence; Brain; diagnostic imaging; Child, Preschool; DNA Mutational Analysis; Female; Group VI Phospholipases A2; genetics; Homozygote; Humans; Magnetic Resonance Imaging; Male; Molecular Sequence Data; Mutation; Neuroaxonal Dystrophies; diagnostic imaging; genetics; Radiography
- From: Chinese Journal of Medical Genetics 2016;33(1):64-67
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo investigate the clinical symptoms and potential mutations in the PLA2G6 gene for a child with infantile neuroaxonal dystrophy.
METHODSClinical 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.
RESULTSThe 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.
CONCLUSIONThe 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.
