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Article

A nonsense mutation in the CUL3 gene in a Chinese patient with autism spectrum disorder and epilepsy: A case report.

Medicine - 7 Apr 2023

Qian Meijia, Lin Shuangzhu, Tan Yangyang, Chen Qiandui, Wang Wanqi, Li Jiayi, Mu Chunyu

Abstract excerpt

RATIONALE: CUL3 (OMIM: 603136) encodes cullin-3, a core component of ubiquitin E3 ligase. Existing medical research suggests that CUL3 mutations are closely related to neurodevelopmental disorder with or without autism or seizures (neurodevelopmental disorder with autism and seizures, OMIM: 619239). However, the number of published case reports of autism spectrum disorder due to CUL3 gene mutations is limited....

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Source

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Identifiers

PMID: 37026922
DOI: 10.1097/MD.0000000000033457
PMCID: PMC10082260

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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