Department of Pediatrics, Tohoku University Graduate School of Medicine, 2-1 Seiryo-machi, Aoba-ku, Sendai, Miyagi 980-8575, Japan.
Department of Pediatrics, Tohoku University Graduate School of Medicine, 2-1 Seiryo-machi, Aoba-ku, Sendai, Miyagi 980-8575, Japan.
Brain Dev. 2021 Feb;43(2):303-307. doi: 10.1016/j.braindev.2020.09.015. Epub 2020 Oct 21.
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.
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*).
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.
CUL3 基因编码 cullin-3，它是泛素 E3 连接酶的核心组成部分。最近，CUL3 突变与自闭症谱系障碍（ASD）有关；然而，具有 CUL3 突变和神经发育疾病（包括 ASD）的患者的详细临床病程仅在少数患者中进行了描述。
一名 21 个月大的日本女孩因发热性癫痫持续状态就诊，此后出现发育倒退，包括丧失言语能力、眼神接触和日常生活活动技能。基于 trio 的外显子组测序发现 CUL3 中存在一个新的两碱基插入，c.1758_1759insTG，p.(Thr587*)。
我们报告了一例 ASD 患者和一个终止密码子 CUL3 变异。对于 ASD 患者，特别是那些具有雷特样发育倒退的患者，筛查 CUL3 变异值得考虑。
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