• Meijia Qian, Shuangzhu Lin, Yangyang Tan, Qiandui Chen, Wanqi Wang, Jiayi Li, and Chunyu Mu.
• Attending Physician, Diagnosis and Treatment Center for Children, The Affiliated Hospital of Changchun University of Chinese Medicine, Changchun, Jilin Province, China.
• Medicine (Baltimore). 2023 Apr 7; 102 (14): e33457e33457.

RationaleCUL3 (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.Patient ConcernA four-year-old Chinese girl presented with generalized epilepsy, and then exhibited developmental regression, including loss of her speaking ability, eye contact aversion, and stereotyped behavior.DiagnosesWhole-exome sequencing identified a nonsense mutation in the CUL3 gene, being c.2065A > T (p.Lys689*); no previous similar case was reported. The final diagnosis was autism, epilepsy, and motor growth retardation.InterventionIn order to improve quality of life of the patient, she was provided with exercise rehabilitation training and autism behavioral guidance therapy for 3 months.OutcomesThe patient's exercise capacity had improved, and improvements in autism symptoms were not obvious.LessonsFor clinicians, patients with developmental regression accompanied with concurrent epilepsy and autism spectrum disorder should be advised that relevant genetic tests are necessary to clarify the diagnosis.Copyright © 2023 the Author(s). Published by Wolters Kluwer Health, Inc.

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