We report 2 cases of girls with MECP2 gene variants who do not have typical clinical features of Rett syndrome except for intellectual disability and seizures. Both patients present with adipositas, macrocephalia, precocious puberty, and seizures. They have prominent eyebrows and a short neck as well as short and plump fingers. Sequencing by NGS revealed a novel variant c.1162_1172del; p.Pro388* in both patients.

中文翻译：

---

新型MECP2突变c.1162_1172del; p.Pro388 *在两名患有非典型Rett综合征症状的患者中。

我们报告2例具有MECP2基因变异的女孩，除了智力残疾和癫痫发作外，没有典型的Rett综合征临床特征。两名患者均出现肥胖，大头畸形，性早熟和癫痫发作。他们的眉毛突出，脖子短，手指又短又丰满。NGS的测序揭示了一个新颖的变体c.1162_1172del；两名患者中均为p.Pro388 *。