PDF(Pubmed)
Abstract：
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.
摘要：
背景：TCF20在脑组织中的表达最为广泛。TCF20缺失或突变可影响胚胎神经元的增殖和分化，导致中枢神经系统发育障碍和随后的罕见综合征。案例介绍:这里,我们报告了一个3岁男孩，在TCF20中携带一种新颖的移码突变，c.1839_1872del（p。Met613IlefsTer159），导致多系统疾病。除了神经发育障碍的症状，头围很大,特殊外观,过度生长,睾丸下降异常.值得注意的是,以前很少报告免疫系统的症状，如高免疫球蛋白血症E（高IgE），免疫性血小板减少性紫癜,牛奶蛋白过敏，和喘息性支气管炎，被观察到。结论:本研究拓宽了TCF20的突变谱和TCF20相关疾病的表型谱。
