Novel ANKRD17 variants implicate synaptic and mitochondrial disruptions in intellectual disability and autism spectrum disorder

Abstract ANKRD17 has recently been implicated in intellectual disability (ID) and autism spectrum disorder (ASD); however, the underlying molecular mechanisms remain unclear. Using trio whole-exome sequencing (Trio-WES) and chromosomal microarray analysis (CMA), we identified two unrelated cases wit...

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出版年:	Journal of Neurodevelopmental Disorders
主要な著者:	Dan Xia, Yuanyuan Xu, Zhanwen He, Rui Chen, Xiaoqin Xiao, Xiaojuan Li, Kewen Deng, Shuyun Deng, Lina Zhang, Jieming Zhang, Xiaofang Peng, Zhe Meng, Ruohao Wu, Dilong Wang, Zulin Liu, Hui Chen, Lu Li, Liyang Liang
フォーマット:	論文
言語:	英語
出版事項:	BMC 2025-07-01
主題:	ANKRD17 haploinsufficiency Intellectual Disability (ID) Autism Spectrum Disorder (ASD) Synaptic protein abnormalities Mitochondrial inhibition
オンライン･アクセス:	https://doi.org/10.1186/s11689-025-09619-3