Clinical and genetic analysis of a case with Thiamine metabolism dysfunction syndrome 5.
10.3760/cma.j.cn511374-20200428-00310
- VernacularTitle:一例硫胺素代谢功能障碍综合征5型患儿的临床特点及遗传学分析
- Author:
Shaowei LI
1
;
Lizhi ZHOU
;
Hai YU
;
Xianrui CHEN
Author Information
1. Department of Children's Health Care, Women and Children's Hospital of Huli District, Xiamen, Fujian 361009, China. chenxianruimiao@163.com.
- Publication Type:Journal Article
- MeSH:
Child, Preschool;
Genetic Testing;
Homozygote;
Humans;
Male;
Mutation;
Thiamine;
Whole Exome Sequencing
- From:
Chinese Journal of Medical Genetics
2021;38(9):873-876
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVE:To report the clinical manifestation and genetic characteristics of a child with Thiamine metabolism dysfunction syndrome 5.
METHODS:Clinical data and genetic results were collected and analyzed. Peripheral blood samples of the child and their parents were collected for whole exome sequencing, and the functional effect of the variants on the TPK1 enzyme activity was verified by an in vitro assay.
RESULTS:A four-year-old boy presented with preschool onset of ataxia were characterized. High-throughput sequencing identified a novel homozygous variant of TPK1 gene c.382G>A (p.Leu128Phe). His father and mother were both found carrying the variant. The variant protein showed a 30.9% reduction in TPK1 enzyme activity compared with the wildtype.
CONCLUSION:A novel pathogenic variant has been identified in a boy with thiamine metabolic dysfunction syndrome type 5.
