SHANK2 code a scaffolding protein located at the postsynaptic membrane of glutamatergic neurons. To date, only nine patients were reported with a SHANK2-variation or microdeletion. Molecular anomalies were identified through screening of large cohorts of patients, but only poor patient clinical descriptions were available. However, this information is crucial for patient care. Here, we describe two additional unrelated patients carrying a SHANK2 de novo variant, improving the delineation of the condition. Phenotypic analysis of these 11 patients identified as major features of the condition: mild to moderate intellectual disability, speech delay, poor language skills, and autism spectrum disorders.

SHANK2编码位于谷氨酸能神经元突触后膜的支架蛋白。迄今为止，仅报道了9位患者发生SHANK2变异或微缺失。通过筛查大量患者来鉴定分子异常，但仅可获得不良的患者临床描述。但是，此信息对于患者护理至关重要。在这里，我们描述了另外两名携带SHANK2 de novo变体的不相关患者，改善了病情描述。对这11名患者的表型分析确定为该病的主要特征：轻度至中度智力障碍，语言障碍，语言能力差和自闭症谱系障碍。