Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
Case Reports
. 2021 Feb;43(2):303-307.
doi: 10.1016/j.braindev.2020.09.015. Epub 2020 Oct 21.

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

Sota Iwafuchi  1 , Atsuo Kikuchi  2 , Wakaba Endo  3 , Takehiko Inui  3 , Yu Aihara  1 , Kazuhito Satou  4 , Tadashi Kaname  4 , Shigeo Kure  1
Affiliations
Case Reports

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

Sota Iwafuchi et al. Brain Dev. 2021 Feb.

Abstract

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.

Keywords: Autism spectrum disorder; CUL3; Whole-exome sequencing.

PubMed Disclaimer

Publication types