当前位置: X-MOL 学术Brain Dev. › 论文详情
Our official English website, www.x-mol.net, welcomes your feedback! (Note: you will need to create a separate account there.)
A novel stop-gain CUL3 mutation in a Japanese patient with autism spectrum disorder
Brain and Development ( IF 1.7 ) Pub Date : 2021-02-01 , DOI: 10.1016/j.braindev.2020.09.015
Sota Iwafuchi 1 , Atsuo Kikuchi 1 , Wakaba Endo 2 , Takehiko Inui 2 , Yu Aihara 1 , Kazuhito Satou 3 , Tadashi Kaname 3 , Shigeo Kure 1
Affiliation  

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.

中文翻译:

日本自闭症谱系障碍患者的一种新的停止增益 CUL3 突变

背景 CUL3 编码 cullin-3,一种泛素 E3 连接酶的核心成分。CUL3 突变最近与自闭症谱系障碍 (ASD) 相关。然而,仅在有限数量的 CUL3 突变和神经发育疾病(包括 ASD)患者中描述了详细的临床过程。病例报告 一名 21 个月大的日本女孩出现发热性癫痫持续状态,随后出现发育倒退,包括丧失语言能力、眼神交流和日常生活活动能力。基于 Trio 的外显子组测序在 CUL3, c.1758_1759insTG, p.(Thr587*) 中发现了一个从头两碱基插入。结论 我们报告了一例患有 ASD 和停止增益 CUL3 变异的患者。对于 ASD 患者,CUL3 变异体的筛查值得考虑,
更新日期:2021-02-01
down
wechat
bug