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Article Abstract
Smith-Magenis syndrome (SMS) is a rare neurodevelopmental disorder caused by haploinsufficiency of the Retinoic Acid Induced 1 (RAI1) gene located at 17p11.2. It is estimated that approximately 90% of patients have a 17p11.2 deletion, including the RAI1 gene, while the remaining 10% exhibit a heterozygous mutation in the RAI1 gene. In this study, we report the generation of a human induced pluripotent stem cell (hiPSC) line derived from a 14-year-old female with an RAI1 mutation, which led to the onset of the SMS phenotype, starting from primary fibroblasts.
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| http://dx.doi.org/10.1016/j.scr.2025.103726 | DOI Listing |
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Department of Neurology and Neurosurgery, Centre for Research in Neuroscience, The Research Institute of the McGill University Health Centre, Montreal, QC H3G 1A3, Canada. Electronic address:
Smith-Magenis syndrome (SMS) is a genomic disorder caused by the deletion of a chromosomal region at 17p11.2. Individuals with SMS are frequently diagnosed with autism and have profound cortical deficits, including reduced cortex volume, mild ventriculomegaly, and epilepsy.
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The Institute for Experimental Pathology®, ARUP Laboratories, Salt Lake City, UT, USA; Department of Pathology, University of Utah and ARUP Laboratories, Salt Lake City, UT, USA. Electronic address:
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Department of Medicine and Surgery, University of Perugia, Piazza L. Severi 1, 06132 Perugia, Italy.
Haploinsufficiency disorders are genetic diseases caused by reduced gene expression, leading to developmental, metabolic, and tumorigenic abnormalities. The dosage-sensitive Retinoic Acid Induced 1 () gene, located within the 17p11.2 region, is central to the core features of Smith--Magenis syndrome (SMS) and Potocki--Lupski syndrome (PTLS), caused by the reciprocal microdeletions and microduplications of this region, respectively.
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Department of Neurology, West China Hospital, Sichuan University, Sichuan, China.
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).