title: [A novel homozygous mutation in PLA2G6 gene causes infantile neuroaxonal dystrophy in a case].
abstract: 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.
  
  
  CONCLUSIONS
  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.
authors.affiliation: Department of Endocrinology, Children's Hospital, Zhejiang University School of Medicine, Hangzhou, Zhejiang 310003, China. dgpxlx@163.com.
authors.forename: Jinling
authors.initials: J
authors.lastname: Wang
authors.forename: Wei
authors.initials: W
authors.lastname: Wu
authors.forename: Xuefeng
authors.initials: X
authors.lastname: Chen
authors.forename: Li
authors.initials: L
authors.lastname: Zhang
authors.forename: Xiumin
authors.initials: X
authors.lastname: Wang
authors.forename: Guanping
authors.initials: G
authors.lastname: Dong
mesh_terms: D000328:Adult; D001483:Base Sequence; D001921:Brain / Q000000981:diagnostic imaging; D002675:Child, Preschool; D004252:DNA Mutational Analysis; D005260:Female; D054522:Group VI Phospholipases A2 / Q000235:genetics*; D006720:Homozygote; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation; D019150:Neuroaxonal Dystrophies / Q000000981:diagnostic imaging / Q000235:genetics*; D011859:Radiography
chemical_list: D054522:Group VI Phospholipases A2; C516475:PLA2G6 protein, human