PURPOSE To define the clinical characteristics of patients with variants in TCF20, we describe 27 patients, 26 of whom were identified via exome sequencing. We compare detailed clinical data with 17 previously reported patients. METHODS Patients were ascertained through molecular testing laboratories performing exome sequencing (and other testing) with orthogonal confirmation; collaborating referring clinicians provided detailed clinical information. RESULTS The cohort of 27 patients all had novel variants, and ranged in age from 2 to 68 years. All had developmental delay/intellectual disability. Autism spectrum disorders/autistic features were reported in 69%, attention disorders or hyperactivity in 67%, craniofacial features (no recognizable facial gestalt) in 67%, structural brain anomalies in 24%, and seizures in 12%. Additional features affecting various organ systems were described in 93%. In a majority of patients, we did not observe previously reported findings of postnatal overgrowth or craniosynostosis, in comparison with earlier reports. CONCLUSION We provide valuable data regarding the prognosis and clinical manifestations of patients with variants in TCF20.

中文翻译：

---

神经发育障碍中 TCF20 的变异：27 名新患者的描述和文献回顾。

目的 为了确定 TCF20 变异患者的临床特征，我们描述了 27 名患者，其中 26 名通过外显子组测序鉴定。我们将详细的临床数据与 17 名先前报告的患者进行比较。方法 患者通过分子检测实验室进行外显子组测序（和其他检测）并进行正交确认；合作转诊的临床医生提供了详细的临床信息。结果 27 名患者的队列都有新的变异，年龄从 2 岁到 68 岁不等。所有人都有发育迟缓/智力障碍。自闭症谱系障碍/自闭症特征占 69%，注意力障碍或多动症占 67%，颅面特征（无法识别的面部格式塔）占 67%，脑结构异常占 24%，癫痫占 12%。93% 的患者描述了影响各种器官系统的其他特征。与早期报告相比，在大多数患者中，我们没有观察到先前报告的产后过度生长或颅缝早闭的发现。结论 我们提供了有关 TCF20 变异患者预后和临床表现的有价值的数据。