Yang Tianmi, Pang Dejiang, Li Chunyu, Shang Huifang
Department of Neurology, West China Hospital, Sichuan University, Sichuan, China.
Laboratory of Neurodegenerative Disorders, West China Hospital, https://ror.org/007mrxy13Sichuan University, Sichuan, China.
Expert Rev Mol Med. 2025 May 29;27:e17. doi: 10.1017/erm.2025.12.
Retinoic acid-induced 1 () is a dosage-sensitive gene implicated in a range of rare neuropsychiatric diseases.
This review provides a comprehensive overview of role, integrating both clinical and basic research on Smith-Magenis syndrome (SMS) and Potocki-Lupski syndrome (PTLS) while also summarising research progress on its involvement in spinocerebellar ataxia (SCA), autism spectrum disorder (ASD), schizophrenia, bipolar disorder and major depression. A systematic review of the literature was conducted using PubMed and EMBASE, following the PRISMA guidelines, with the protocol registered in PROSPERO (CRD42023474165).
A total of 99 eligible studies on were included. We presented detailed characterisations of SMS and PTLS patients, emphasising the crucial role of haploinsufficiency and overexpression in their pathogenesis. Additionally, we summarised research progress on in SCA, ASD, schizophrenia, bipolar disorder and major depression. Integrating findings from animal studies, particularly those examining the regulatory mechanisms of in critical phenotypes, such as body weight, sleep and epilepsy, underscores the precise regulation of expression in maintaining various nervous system functions.
Overall, this review contributes to the identification of -related neuropsychiatric diseases, with a particular emphasis on enhancing clinical diagnosis of SMS and PTLS in developing countries.
维甲酸诱导基因1（）是一个剂量敏感基因，与一系列罕见的神经精神疾病有关。
本综述全面概述了该基因的作用，整合了关于史密斯-马吉尼斯综合征（SMS）和波托基-卢普斯基综合征（PTLS）的临床和基础研究，同时总结了其在脊髓小脑共济失调（SCA）、自闭症谱系障碍（ASD）、精神分裂症、双相情感障碍和重度抑郁症中的研究进展。按照PRISMA指南，使用PubMed和EMBASE对文献进行了系统综述，方案已在PROSPERO（CRD42023474165）中注册。
共纳入了99项关于该基因的合格研究。我们详细描述了SMS和PTLS患者的特征，强调了该基因单倍剂量不足和过表达在其发病机制中的关键作用。此外，我们总结了该基因在SCA、ASD、精神分裂症、双相情感障碍和重度抑郁症中的研究进展。整合动物研究的结果，特别是那些研究该基因在体重、睡眠和癫痫等关键表型中的调控机制的研究，强调了该基因表达的精确调控在维持各种神经系统功能中的重要性。
总体而言，本综述有助于识别与该基因相关的神经精神疾病，特别强调加强发展中国家对SMS和PTLS的临床诊断。
