Retinoic Acid-Induced 1 Gene and Neuropsychiatric Diseases: A Systematic Review.

BACKGROUND

Retinoic acid-induced 1 () is a dosage-sensitive gene implicated in a range of rare neuropsychiatric diseases.

METHODS

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).

RESULTS

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.

CONCLUSIONS

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.