Analysis of PLA2G6 gene variant in a family affected with infantile neuroaxonal dystrophy
10.3760/cma.j.issn.1003-9406.2020.01.006
- VernacularTitle: 一个婴儿神经轴索营养不良家系的基因变异分析
- Author:
Jianqiang TAN
1
;
Tizhen YAN
;
Rongni CHANG
;
Dejian YUAN
;
Lizhen PAN
;
Ren CAI
Author Information
1. Department of Medical Genetics, Liuzhou Maternal and Child Health Care Hospital, Liuzhou, Guangxi 545001, China
- Publication Type:Journal Article
- Keywords:
Infantile neuroaxonal dystrophy;
Next generation sequencing;
PLA2G6 gene;
Gene variant
- From:
Chinese Journal of Medical Genetics
2020;37(1):21-24
- CountryChina
- Language:Chinese
-
Abstract:
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.
