Case Report: De novo variant of the NUS1 gene associated with developmental delay and autism spectrum disorders in a Chinese family

BackgroundNuclear undecaprenyl pyrophosphate synthase 1 (NUS1) has been implicated in the pathogenesis of neurodevelopmental disorders, including Parkinson's disease, seizures, intellectual disability, dystonia, and congenital disorder of glycosylation. To this day, there have been limited stud...

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Bibliographic Details

Published in:	Frontiers in Pediatrics
Main Authors:	Feng Ding, Junlin Pan, Shuhua Ji, Yan Zhang, Jinwei Hou, Na Shi, Haiping Liu
Format:	Article
Language:	English
Published:	Frontiers Media S.A. 2025-05-01
Subjects:	NUS1 developmental delay autism spectrum disorders case report whole-exome sequencing
Online Access:	https://www.frontiersin.org/articles/10.3389/fped.2025.1557103/full