A novel stop-gain CUL3 mutation in a Japanese patient with autism spectrum disorder

Sota Iwafuchi, Atsuo Kikuchi, Wakaba Endo, Takehiko Inui, Yu Aihara, Kazuhito Satou, Tadashi Kaname, Shigeo Kure

Research output: Contribution to journalArticlepeer-review

7 Citations (Scopus)


Background: CUL3 encodes cullin-3, a core component of a ubiquitin E3 ligase. CUL3 mutations have recently been associated with autism spectrum disorder (ASD); however, the detailed clinical courses have been described in only a limited number of patients with CUL3 mutations and neurodevelopmental diseases, including ASD. Case report: A 21-month-old Japanese girl presented with febrile status epilepticus and thereafter exhibited developmental regression, including loss of her verbal ability, eye contact, and skills in activities of daily living. Trio-based exome sequencing identified a de novo two-base insertion in CUL3, c.1758_1759insTG, p.(Thr587*). Conclusion: We report a case of a patient with ASD and a stop-gain CUL3 variant. Screening of CUL3 variants is worth considering for patients with ASD, especially those with Rett-like developmental regression.

Original languageEnglish
Pages (from-to)303-307
Number of pages5
JournalBrain and Development
Issue number2
Publication statusPublished - 2021 Feb


  • Autism spectrum disorder
  • CUL3
  • Whole-exome sequencing


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