A syndrome featuring developmental disorder of the nervous system induced by a novel mutation in the TCF20 gene, rarely concurrent immune disorders: a case report

Frontiers in Genetics

Genetics

Yiyang Li¹  Fujian Liang²  Xiuwen Lin²  Jing Xin²  Jiaxin Xu²  Wenhui Mo²  Yan Bai²  Si Huang³  Jing Chen⁴  Guochun Huang⁴  Guoda Ma⁵  Yajun Wang⁵ 

[1] Department of Pediatrics, The Third Affiliated Hospital of Guangzhou Medical University, Guangzhou, China;Foshan Fosun Chancheng Hospital, Foshan, China;Foshan Fosun Chancheng Hospital, Foshan, China;Shunde Women and Children’s Hospital of Guangdong Medical University, Foshan, China;Institute of Maternal and Child Research, Shunde Women and Children’s Hospital of Guangdong Medical University, Foshan, China;Key Laboratory of Research in Maternal and Child Medicine and Birth Defects, Guangdong Medical University, Foshan, China;Shunde Women and Children’s Hospital of Guangdong Medical University, Foshan, China;Shunde Women and Children’s Hospital of Guangdong Medical University, Foshan, China;Institute of Maternal and Child Research, Shunde Women and Children’s Hospital of Guangdong Medical University, Foshan, China;Key Laboratory of Research in Maternal and Child Medicine and Birth Defects, Guangdong Medical University, Foshan, China;

关键词: TCF20;    frameshift mutation;    central nervous system;    immune system diseases;    multisystem;   

DOI  :  10.3389/fgene.2023.1192668

 received in 2023-03-23, accepted in 2023-05-18,  发布年份 2023

来源: Frontiers

【 摘 要 】

Background: The expression of TCF20 is the most widespread in brain tissue. TCF20 depletion or mutation can affect the proliferation and differentiation of embryonic neurons, leading to developmental disorder of the central nervous system and subsequent rare syndrome featuring.Case presentation: Here, we report a 3-year-old boy carrying a novel frameshift mutation in TCF20, c.1839_1872del (p.Met613IlefsTer159), resulting in multisystem disease. In addition to symptoms of neurodevelopmental disorder, a large head circumference, special appearance, overgrowth, abnormal testicular descent. Remarkably, previously infrequently reported symptoms of the immune system such as hyperimmunoglobulinemia E (hyper-IgE), immune thrombocytopenic purpura, cows milk protein allergy, and wheezy bronchitis, were observed.Conclusion: This study broadens the mutation spectrum of the TCF20 and the phenotypic spectrum of TCF20-associated disease.

【 授权许可】

Unknown   
Copyright © 2023 Huang, Xu, Li, Mo, Lin, Wang, Liang, Bai, Huang, Chen, Xin and Ma.