Chen, Li Tao, Yu Song, Fan Yuan, Xi Wang, Jian and Saffen, David 2016. Evidence for genetic regulation of mRNA expression of the dosage-sensitive gene retinoic acid induced-1 (RAI1) in human brain. Scientific Reports, Vol. 6, p. 19010.
Dickinson, Amanda J.G. 2016. Using frogs faces to dissect the mechanisms underlying human orofacial defects. Seminars in Cell & Developmental Biology, Vol. 51, p. 54.
Nijim, Yousif Adawi, Amin Bisharat, Bishara and Bowirrat, Abdalla 2016. First Case Report of Smith–Magenis Syndrome (SMS) Among the Arab Community in Nazareth. Medicine, Vol. 95, Issue. 3, p. e2362.
Alaimo, Joseph T. Barton, Laura V. Mullegama, Sureni V. Wills, Rachel D. Foster, Rebecca H. and Elsea, Sarah H. 2015. Individuals with Smith-Magenis syndrome display profound neurodevelopmental behavioral deficiencies and exhibit food-related behaviors equivalent to Prader-Willi syndrome. Research in Developmental Disabilities, Vol. 47, p. 27.
Crapper, Liam and Ernst, Carl 2015. Comparative Analysis of Self-Injury in People with Psychopathology or Neurodevelopmental Disorders. Pediatric Clinics of North America, Vol. 62, Issue. 3, p. 619.
Capra, Valeria Biancheri, Roberta Morana, Giovanni Striano, Pasquale Novara, Francesca Ferrero, Giovanni Battista Boeri, Luca Celle, Maria Elena Mancardi, Maria Margherita Zuffardi, Orsetta Parrini, Elena and Guerrini, Renzo 2014. Periventricular nodular heterotopia in Smith-Magenis syndrome. American Journal of Medical Genetics Part A, Vol. 164, Issue. 12, p. 3142.
Maya, Idit Vinkler, Chana Konen, Osnat Kornreich, Liora Steinberg, Tamar Yeshaya, Josepha Latarowski, Victoria Shohat, Mordechai Lev, Dorit and Baris, Hagit N. 2014. Abnormal brain magnetic resonance imaging in two patients with Smith-Magenis syndrome. American Journal of Medical Genetics Part A, Vol. 164, Issue. 8, p. 1940.
Mullegama, Sureni V Rosenfeld, Jill A Orellana, Carmen van Bon, Bregje W M Halbach, Sara Repnikova, Elena A Brick, Lauren Li, Chumei Dupuis, Lucie Rosello, Monica Aradhya, Swaroop Stavropoulos, D James Manickam, Kandamurugu Mitchell, Elyse Hodge, Jennelle C Talkowski, Michael E Gusella, James F Keller, Kory Zonana, Jonathan Schwartz, Stuart Pyatt, Robert E Waggoner, Darrel J Shaffer, Lisa G Lin, Angela E de Vries, Bert B A Mendoza-Londono, Roberto and Elsea, Sarah H 2014. Reciprocal deletion and duplication at 2q23.1 indicates a role for MBD5 in autism spectrum disorder. European Journal of Human Genetics, Vol. 22, Issue. 1, p. 57.
Tan, Ene-Choo Tan, Hui-San Chua, Tze-Ern Lee, Theresa Ng, Jasmine Ch’ng, Ying-Chia Choo, Chih-Huei and Chen, Helen Y. 2014. Association of premenstrual/menstrual symptoms with perinatal depression and a polymorphic repeat in the polyglutamine tract of the retinoic acid induced 1 gene. Journal of Affective Disorders, Vol. 161, p. 43.
Jensen, Pernille Linnert Beck, Hans Christian Petersen, Jørgen Hreinsson, Julius Wånggren, Kjell Laursen, Steen B. Sørensen, Pernille Dissing Christensen, Søren Tvorup and Andersen, Claus Yding 2013. Proteomic Analysis of Human Blastocoel Fluid and Blastocyst Cells. Stem Cells and Development, Vol. 22, Issue. 7, p. 1126.
Qian, Xiaojing Mruk, Dolores D. Cheng, Yan-ho and Cheng, C. Yan 2013. RAI14 (retinoic acid induced protein 14) is an F-actin regulator. Spermatogenesis, Vol. 3, Issue. 2, p. e24824.
Weselake, SV and Wevrick, R 2012. Co-morbidity of complex genetic disorders and hypersomnias of central origin: lessons from the underlying neurobiology of wake and sleep. Clinical Genetics, Vol. 82, Issue. 4, p. 379.
Williams, Stephen R. Zies, Deborah Mullegama, Sureni V. Grotewiel, Michael S. and Elsea, Sarah H. 2012. Smith-Magenis Syndrome Results in Disruption of CLOCK Gene Transcription and Reveals an Integral Role for RAI1 in the Maintenance of Circadian Rhythmicity. The American Journal of Human Genetics, Vol. 90, Issue. 6, p. 941.
Smith–Magenis syndrome (SMS) is a complex neurobehavioural disorder characterised by intellectual disability, self-injurious behaviours, sleep disturbance, obesity, and craniofacial and skeletal anomalies. Diagnostic strategies are focused towards identification of a 17p11.2 microdeletion encompassing the gene RAI1 (retinoic acid induced 1) or a mutation of RAI1. Molecular evidence shows that most SMS features are due to RAI1 haploinsufficiency, whereas variability and severity are modified by other genes in the 17p11.2 region for 17p11.2 deletion cases. The functional role of RAI1 is not completely understood, but it is probably a transcription factor acting in several different biological pathways that are dysregulated in SMS. Functional studies based on the hypothesis that RAI1 acts through phenotype-specific pathways involving several downstream genes have shown that RAI1 gene dosage is crucial for normal regulation of circadian rhythm, lipid metabolism and neurotransmitter function. Here, we review the clinical and molecular features of SMS and explore more recent studies supporting possible therapeutic strategies for behavioural management.
This list contains references from the content that can be linked to their source. For a full set of references and notes please see the PDF or HTML where available.
Email your librarian or administrator to recommend adding this journal to your organisation's collection.