Analysis of PRX gene variants in a child with Charcot-Marie-Tooth disease type 4F
10.3760/cma.j.cn511374-20210311-00211
- VernacularTitle:一例Charcot-Marie-Tooth病4F型患儿的 PRX基因变异分析
- Author:
Ya′nan YANG
1
;
Shuxin YE
;
Yuqiang LYU
;
Hongmei XIN
;
Min GAO
;
Jian MA
;
Dong WANG
;
Zhongtao GAI
;
Yi LIU
Author Information
1. 山东大学齐鲁儿童医院儿科研究所，济南 250022
- Keywords:
Charcot-Marie-Tooth disease;
PRX gene;
Next-generation sequencing
- From:
Chinese Journal of Medical Genetics
2022;39(7):749-753
- CountryChina
- Language:Chinese
-
Abstract:
Objective:To explore the genetic etiology of a child suspected for peroneal muscular atrophy.Methods:The child and his parents were analyzed by using next generation sequencing.Results:The child was found to harbor compound heterozygous variants of c. 52G>T (p.Glu18X) and c. 1390C>T (p.Arg464X) of the PRX gene, which were inherited from his father and mother, respectively. Among these, the c. 52G>T variant was previously unreported. Based on the standards and guidelines of the American College of Medical Genetics and Genomics, both variants were predicted to be pathogenic (PVS1+ PM2+ PM3, PVS1+ PM3-Strong+ PM2+ BS2). Conclusion:The compound heterozygous variants of the PRX gene probably underlay the Charcot-Marie-Tooth disease type 4F in this child. Above finding has enriched the mutational spectrum of the PRX gene.
