PLA2G6 gene related early onset Parkinson syndrome with cerebellar atrophy: 3 cases report / 中华神经科杂志

To investigate the clinical features of patients with PLA2G6 gene related early onset Parkinson syndrome (EOP) with cerebellar atrophy, the clinical data of 3 hospitalized EOP patients with PLA2G6 gene mutation were collected in Xuanwu Hospital, Capital Medical University, and the clinical characteristics, imaging features and genetic testing results were comparatively analyzed. Related literatures were also reviewed. Cerebellar atrophy was observed on cranial magnetic resonance imaging in all 3 patients with Parkinson syndrome except for extrapyramidal symptoms. All 3 patients had heterozygous mutations of PLA2G6 gene, and the common mutation site of c.991G>T (p. D331Y) was found in 2 patients by second-generation sequencing. This report enlarges the clinical phenotypic spectrum of the disease and helps to better understand the disease.

Analysis of PLA2G6 gene variant in a family affected with infantile neuroaxonal dystrophy / 中华医学遗传学杂志

Objective@#To identify potential variant in a child diagnosed as infantile neuroaxonal dystrophy.@*Methods@#Genomic DNA was extracted from peripheral blood samples from the patient and his parents and subjected to next generation sequencing. Suspected variant was verified by PCR and Sanger sequencing. Pathogenicity of the mutation was predicted by using bioinformatic software including SIFT and PolyPhen-2.@*Results@#The child was found to carry compound heterozygous variations c. 668C>A (p.Pro223Gln) and c. 2266C>T (p.Gln756Ter) of the PLA2G6 gene, which were respectively inherited from his father and mother. c. 2266C>T has changed codon 756 (glutamine) into a stop codon, resulting premature termination of peptide chain synthesis. c. 2266C>T has not been reported previously and was predicted to be harmful.@*Conclusion@#The compound variants of c. 668C>A (p.Pro223Gln) and c. 2266C>T (p.Gln756Ter) of the PLA2G6 gene probably underlies the disease in the child. Above finding has enriched the variant spectrum of the PLA2G6 gene.

A homozygous mutation in PLA2G6 gene causing infantile neuroaxonal dystrophy: a case report / 临床儿科杂志

Objective To explore the clinical and the genetic features of infantile neuroaxonal dystrophy (INAD).Methods The clinical and laboratory data,neuroimaging examination and genetic testing results of one child with INAD were retrospectively analyzed.Results A 2 years old boy presented motor and verbal dexterity regression and hypotonia.Laboratory findings revealed decreased total iron-binding capacity in serum with increased glutamic oxaloacetic transaminase (AST) and lactic dehydrogenase (LDH).Myoelectrography showed neurogenic impairments of the arms and legs,and the color doppler ultrasound of the heart,video-EEG and brain MRI results were normal.A homozygous mutation of c.1077G＞A was found in PLA2G6 gene of the infant.The infant's parents were heterozygous mutation carriers at this locus.Conclusions PLA2G6 gene mutations cause INAD.