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

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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Bibliographic Details
Main Authors: 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
Format: Article
Language:English
Published: BMC 2025-07-01
Series:Journal of Neurodevelopmental Disorders
Subjects:
ANKRD17 haploinsufficiency
Intellectual Disability (ID)
Autism Spectrum Disorder (ASD)
Synaptic protein abnormalities
Mitochondrial inhibition
Online Access:https://doi.org/10.1186/s11689-025-09619-3
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