Li Shaowei, Zhou Lizhi, Yu Hai, Chen Xianrui
Department of Children's Health Care, Women and Children's Hospital of Huli District, Xiamen, Fujian 361009, China.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2021 Sep 10;38(9):873-876. doi: 10.3760/cma.j.cn511374-20200428-00310.
To report the clinical manifestation and genetic characteristics of a child with Thiamine metabolism dysfunction syndrome 5.
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.
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.
A novel pathogenic variant has been identified in a boy with thiamine metabolic dysfunction syndrome type 5.
报告1例5型硫胺素代谢功能障碍综合征患儿的临床表现及遗传学特征。
收集并分析临床资料及基因检测结果。采集患儿及其父母的外周血样本进行全外显子测序，并通过体外实验验证变异对TPK1酶活性的功能影响。
一名4岁男孩，以学龄前起病的共济失调为特征。高通量测序鉴定出TPK1基因一个新的纯合变异c.382G>A（p.Leu128Phe）。其父亲和母亲均携带该变异。与野生型相比，变异蛋白的TPK1酶活性降低了30.9%。
在1例5型硫胺素代谢功能障碍综合征男孩中鉴定出一个新的致病变异。
