Analysis of TNPO3 gene variant and clinical phenotype in a neonate with limb-girdle muscular dystrophies form 1F.
10.3760/cma.j.cn511374-20210804-00649
- VernacularTitle:一个肢带型肌营养不良症1F家系的
TNPO3基因变异及临床表型分析
- Author:
Min GAO
1
;
Liangchao HOU
;
Kaihui ZHANG
;
Yuqiang LYU
;
Jian MA
;
Dong WANG
;
Zhongtao GAI
;
Yi LIU
Author Information
1. Pediatric Research Institute, Children's Hospital Affiliated Shandong University(Jinan Children's Hospital), Jinan, Shandong 250022, China. liuyi-ly@126.com.
- Publication Type:Journal Article
- MeSH:
Genetic Testing;
Heterozygote;
High-Throughput Nucleotide Sequencing;
Humans;
Infant;
Male;
Muscular Dystrophies, Limb-Girdle/genetics*;
Mutation;
Phenotype;
beta Karyopherins/genetics*
- From:
Chinese Journal of Medical Genetics
2022;39(9):979-982
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVE:To explore the genetic basis for a neonate featuring developmental delay.
METHODS:Clinical examination and laboratory tests were carried out for the patient. Peripheral venous blood samples of the proband and his parents were extracted and subjected to target capture next generation sequencing. Candidate variant was verified by Sanger sequencing.
RESULTS:The patient, a four-month-old male, has presented with developmental delay and weakness of limbs. Genetic testing revealed that he had harbored a novel c.1432C>T variant of the TNPO3 gene, which was inherited from his mother. The nonsense variant has resulted in premature termination of protein translation and was predicted to be pathogenic by bioinformatics analysis.
CONCLUSION:The heterozygous c.1432C>T variant of the TNPO3 gene probably underlay the limb-girdle muscular dystrophies form 1F in this patient. Above finding has enriched the variation spectrum of the TNPO3 gene.
