Analysis of clinical features and FKTN gene variant in a child with congenital muscular dystrophy
10.3760/cma.j.cn511374-20210207-00119
- VernacularTitle:一例先天性肌营养不良患儿的临床特征及 FKTN基因变异分析
- Author:
Yuxin ZHANG
1
;
Yanjie XIA
;
Qinghua WU
;
Yilin REN
;
Xiangdong KONG
;
Guangyao SHENG
Author Information
1. 河南科技大学第一附属医院儿科，洛阳 471003
- Keywords:
Fukuyama congenital muscular dystrophy;
Congenital muscular dystrophy;
FKTN gene;
Genetic variant
- From:
Chinese Journal of Medical Genetics
2022;39(7):722-726
- CountryChina
- Language:Chinese
-
Abstract:
Objective:To analyze the clinical features and genetic basis for a child featuring elevated creatine kinase (CK).Methods:Next-generation sequencing (muscular dystrophy-related gene panel) was carried out for the proband. Candidate variants were verified by Sanger sequencing of the child and his parents.Results:The child was found to harbor compound heterozygous variants of the FKTN gene, including a missense c. 536G>C (p.R179T) variant from his father and a non-frameshift c. 1299_1301delGTG (p.W434del) variant from his mother. Both variants were predicted to be pathogenic. Conclusion:The compound heterozygous variants of the FKTN gene probably underlay the disease in this child. Above finding has expanded the mutation spectrum of congenital muscular dystrophy.
