Clinical Genetics
Clinical and genetic analysis of a case with Thiamine metabolism dysfunction syndrome 5
Li Shaowei, Zhou Lizhi, Yu Hai, Chen Xianrui
Published 2021-09-10
Cite as Chin J Med Genet, 2021, 38(9): 873-876. DOI: 10.3760/cma.j.cn511374-20200428-00310
Abstract
ObjectiveTo report the clinical manifestation and genetic characteristics of a child with Thiamine metabolism dysfunction syndrome 5.
MethodsClinical data and genetic results were collected and analyzed. Peripheral blood samples of the child and their parents was collected for whole exome sequencing, and the functional effect of the variants on the TPK1 enzyme activity was verified by an in vitro assay.
ResultsA 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.
ConclusionA novel pathogenic variant has been identified in a boy with thiamine metabolic dysfunction syndrome type 5.
Key words:
Thiamine metabolism dysfunction syndrome 5; Gene variant; TPK1 gene
Contributor Information
Li Shaowei
Department of Children’s Health Care, Women and Children’s Hospital of Huli District, Xiamen, Fujian 361009, China
Zhou Lizhi
State Key Laboratory of Molecular Vaccinology and Molecular Diagnostics, School of Public Health, Xiamen University, Xiamen, Fujian 361102, China
Yu Hai
State Key Laboratory of Molecular Vaccinology and Molecular Diagnostics, School of Public Health, Xiamen University, Xiamen, Fujian 361102, China
Chen Xianrui
Department of Pediatrics, The First Affiliated Hospital of Xiamen University, Pediatric Key Laboratory of Xiamen, Institute of Pediatrics, School of Medicine, Xiamen University, Xiamen , Fujian 361003, China
