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[Clinical and genetic analysis of a case with Thiamine metabolism dysfunction syndrome 5].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 10 Sept 2021

Li Shaowei, Zhou Lizhi, Yu Hai, Chen Xianrui

Abstract excerpt

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....

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Mutation
Child, Preschool
Exome Sequencing
Genetic Testing
Homozygote

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PMID: 34487534
DOI: 10.3760/cma.j.cn511374-20200428-00310

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