Neurodevelopmental disorders (NDDs) show a wide range of overlapping clinical features. Intellectual disability (ID), developmental delay (DD), autism spectrum disorder (ASD), attention-deficit hyperactivity disorder (ADHD), language and communication disorders with or without motor abnormalities and/or epilepsy have been reported associated to single or multiple genes but in many cases the genetic basis remains unknown.

The increasingly use of array-CGH has significantly improved the yield of diagnosing genomic disorders and led to the identification of several novel microdeletion and microduplication syndromes.

TANC2 encodes a synaptic scaffold protein interacting with multiple neuropsychiatric disorder-related postsynaptic density (PSD) proteins in dendrites.

Here, we describe a new case of TANC2 gene disruption in a 17q23.3 de novo microdeletion identified by array-CGH. The patient presented craniofacial dysmorphic features, hypotonia, and severe cognitive and motor impairment.

In conclusion, our data add a further line of evidence supporting the role of TANC2 in NDDs and will help further researches to elucidate the regulatory mechanism of synaptic function and plasticity related to TANC2 haploinsufficiency.

神经发育障碍（NDD）显示出多种重叠的临床特征。智力残疾（ID），发育迟缓（DD），自闭症谱系障碍（ASD），注意力缺陷多动障碍（ADHD），有或没有运动异常和/或癫痫的语言和交流障碍均与单基因或多基因相关但在许多情况下，遗传基础仍然未知。

阵列-CGH的越来越多的使用已大大提高了诊断基因组疾病的效率，并导致了几种新型微缺失和微复制综合征的鉴定。

TANC2编码突触支架蛋白与树突中的多个神经精神疾病相关的突触后密度（PSD）蛋白相互作用。

在这里，我们描述了阵列CGH确定的17q23.3 de novo微缺失中TANC2基因破坏的新情况。该患者表现出颅面畸形，肌张力低下以及严重的认知和运动障碍。

总之，我们的数据增加了进一步的证据支持TANC2在NDDs中的作用，并将有助于进一步的研究阐明与TANC2单倍功能不全相关的突触功能和可塑性的调节机制。