Mutations in DDX3X have recently been identified as a common cause of intellectual disability and congenital anomalies. DDX3X (Xp11.4) encodes the DEAD box RNA helicase that plays an important role in gene regulation, apoptosis, and oncogenesis.

Here, we report a case of 6-year-old Japanese girl with a novel variant (NM_001193416.3: c.1574A > G; p.(Tyr525Cys), who exhibited psychomotor retardation, severe constipation, and a recurrent paralytic ileus. This is the second report of severe gastrointestinal symptoms being associated with this disease. This report expands the phenotype caused by DDX3X variants and reveals an important clinical aspect for patients and medical staff.

最近，DDX3X中的突变被确定为智力残疾和先天性异常的常见原因。DDX3X（Xp11.4）编码DEAD盒RNA解旋酶，该酶在基因调节，细胞凋亡和肿瘤发生中起重要作用。

在这里，我们报道了一例6岁的日本女孩，她的新变种（NM_001193416.3：c.1574A> G; p。（Tyr525Cys），表现出精神运动迟缓，严重便秘和复发性麻痹性肠梗阻。是该病相关的严重胃肠道症状的第二份报告，该报告扩展了由DDX3X变体引起的表型，并揭示了对患者和医务人员重要的临床方面。