AUTHOR=Huang Si , Xu Jiaxin , Li Yiyang , Mo Wenhui , Lin Xiuwen , Wang Yajun , Liang Fujian , Bai Yan , Huang Guochun , Chen Jing , Xin Jing , Ma Guoda 

TITLE=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

JOURNAL=Frontiers in Genetics

VOLUME=14

YEAR=2023

URL=https://www.frontiersin.org/journals/genetics/articles/10.3389/fgene.2023.1192668

DOI=10.3389/fgene.2023.1192668

ISSN=1664-8021

ABSTRACT=<p><bold>Background:</bold> 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.</p><p><bold>Case presentation:</bold> Here, we report a 3-year-old boy carrying a novel frameshift mutation in <italic>TCF20,</italic> 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.</p><p><bold>Conclusion:</bold> This study broadens the mutation spectrum of the <italic>TCF20</italic> and the phenotypic spectrum of TCF20-associated disease.</p>