Abstract
Smith Magenis syndrome (SMS), is a rare genetic disease emblematic of neurodevelopmental disorder. Clinical features include mild dysmorphism, short stature, developmental delay and abnormal behavior. Severe sleep disturbances and maladaptive daytime behavior were linked to abnormal circadian rhythm of melatonin. SMS is the demonstration of biological basis for sleep disorder in a genetic disease
First described by Ann Smith et al in 19821,2, SMS is a contiguous gene deletion syndrome ascribed to interstitial deletion of chromosome 17 (17pl 1.2).3,4 Its prevalence is estimated to 1/25,000 live births, however, due to recent delineation, most persons with SMS having been identified in the last 10 years, the prevalence could reflects under ascertainment. All cases occur de novo, there is no parental imprinting
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References
Smith, A. C. M.; McGavran, L.; Robinson, J.; Waldstein, G.; Macfarlane, J.; Zonana, J.; Reiss, J.; Lahr, M.; Allen, L.; Magenis, E.: Interstitial deletion of (17)(p11.2p11.2) in nine patients. Am. J. Med. Genet. 24: 393–414, (1986).
Greenberg, F.; Guzzetta, V.; Montes de Oca-Luna, R.; Magenis, R. E.; Smith, A. C. M.; Richter, S. F.; Kondo, I.; Dobyns, W. B.; Patel, P. I.; Lupski, J. R.: Molecular analysis of the Smith-Magenis syndrome: a possible contiguous-gene syndrome associated with del(17)(p11.2). Am. J. Hum. Genet. 49: 1207–1218, (1991).
Moncla, A.; Piras, L.; Arbex, O. F.; Muscatelli, F.; Mattei, M.-G.; Mattei, J.-F.; Fontes, M.: Physical mapping of microdeletions of the chromosome 17 short arm associated with Smith-Magenis syndrome. Hum. Genet. 90: 657–660, (1993).
Juyal R.C., Figuera L.E., Hauge X., Elsea S.H., Lupski J.R., Greenberg F., Baldini A., Patel P.I., Molecular analysis of 17p11.2 deletion in 62 Smith-Magenin syndrome patients. Am. J. Hum.Genet. 58:998–1007. (1996)
Greenberg F, Lewis RA, Potocki L, Glaze L, Parke J, Killian J, et al. Multi disciplinary clinical study of Smith-Magenis syndrome (deletion 17p11.2). Am J Med Genet 62:247–54. (1996)
Smith ACM, Dykens E, Greenberg F. Behavioral phenotype of Smith-Magenis syndrome (del 17p11.2) Am J Med Genet;81:179–185 (1998)
Boddaert N., De Leersnyder H., Bourgeois M., Munnich A., Brunelle F., Zilbovivius M. Anatomical and functional brain imaging evidence of lenticuloinsular anomalies in Smith Magenis syndrome. Neuroimage 21 1021–1025. (2004)
Smith ACM, Dykens E, Greenberg F. Sleep disturbance in Smith-Magenis syndrome (del 17p11.2). Am J Med Genet;81:186–91. (1998)
Lucas, R. E.; Vlangos, C. N.; Das, P.; Patel, P. I.; Elsea, S. H.: Genomic organization of the ∼1.5 Mb Smith-Magenis syndrome critical interval: transcription map, genomic contig, and candidate gene analysis. Europ. J. Hum. Genet. 9: 892–902 (2001).
Potocki, L.; Chen, K.-S.; Park, S.-S.; Osterholm, D. E.; Withers, M. A.; Kimonis, V.; Summers, A. M.; Meschino, W. S.; Anyane-Yeboa, K.; Kashork, C. D.; Shaffer, L. G.; Lupski, J. R.: Molecular mechanism for duplication 17p11.2—the homologous recombination reciprocal of the Smith-Magenis microdeletion. Nature Genet. 24: 84–87 (2000).
Slager, R. E.; Newton, T. L.; Vlangos, C. N.; Finucane, B.; Elsea, S. H.: Mutations in RAI1 associated with Smith-Magenis syndrome. Nature Genet. 33: 466–468,(2003).
Potocki, L.; Glaze, D.; Tan, D.-X.; Park, S.-S.; Kashork, C. D.; Shaffer, L. G.; Reiter, R. J.; Lupski, J. R.: Circadian rhythm abnormalities of melatonin in Smith-Magenis syndrome. J. Med. Genet. 37: 428–433,(2000).
De Leersnyder, H.; de Blois, M.-C.; Claustrat, B.; Romana, S.; Albrecht, U.; von Kleist-Retzow, J.-C.; Delobel, B.; Viot, G.; Lyonnet, S.; Vekemans, M.; Munnich, A.: Inversion of the circadian rhythm of melatonin in the Smith-Magenis syndrome. J. Pediat. 139: 111–116, (2001).
Cavallo A. Plasma melatonin rhythm in normal puberty: interactions of age and pubertal stages. Neuroendocrinology;55:372–9.(1992)
Cornelissen G., Halberg F., Tarquini R., Perfetto F., Salti R., Laffi G., Otsuka K. Point and interval estimations of circadian melatonin ecphasia in Smith-Magenis syndrome. Biomed.Pharmacother. 57.1: 39–44.(2003)
Moore RY. Circadian rhythms: basic neurobiology and clinical applications. Annu. Rev. Med.; 48: 253–266. (1997)
Brzezinski A. Melatonin in humans. N Engl J Med;336:186–95.(1997)
Van Esseveldt L.E. Lehman M.N. Boer G.J. The suprachiasmatic nucleus and the circadian time-keeping system revisited. Brain Research Reviews 33: 34–77. (2000)
Wager-Smith K. Kay S.A. Circadian rhythms genetics: from flies to mice to humans. Nature genetics. 26: 23–27. (2000)
Potocki L, Chen KS, Lupski J. Subunit 3 of the COP9 signal transduction complex is conserved from plants to humans and maps within the Smith-Magenis syndrome critical region in 17p11.2. Genomics; 57:180–2.(1999)
Arendt J. Mamalian pineal rhythms. Pineal Res Rev. 3: 161–213. (1985)
Jan J.E., Freeman R.D., Fast D.K. Melatonin treatment of sleep-wake cycle disorders in children and adolescents. Dev. Med. Child.Neurol. 41, 491–500. (1999)
De Leersnyder, H.; de Blois, M.-C.; Vekemans, M.; Sidi, D.; Villain, E.; Kindermans, C.; Munnich, A.: Beta-1-adrenergic antagonists improve sleep and behavioural disturbances in a circadian disorder, Smith-Magenis syndrome. J. Med. Genet. 38: 586–590, (2001).
De Leersnyder, H.; Bresson J.L. de Blois, M.-C.; Souberbielle J.C., Mogenet A., Delhotal-Landes B., Salefranque F., Munnich, A.: Beta-1-adrenergic antagonists and melatonin reset the clock and restore sleep in a circadian disorder, Smith-Magenis syndrome. J. Med. Genet. 40: 74–78, (2003).
Stoschitzky K., Sakotnik A., Lercher P., Sweiker R., Maier R., Liebmann P., Lindner W. Infdluence of beta blockers on melatonin release. Eur. J. Clin. Pharmacol. 55: 111–1. (1999).
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de Leersnyder, H. (2006). Sleep and Circadian Rhythm of Melatonin in Smith-Magenis Syndrome. In: Cardinali, D.P., Pandi-Perumal, S.R. (eds) Neuroendocrine Correlates of Sleep/Wakefulness. Springer, Boston, MA. https://doi.org/10.1007/0-387-23692-9_13
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DOI: https://doi.org/10.1007/0-387-23692-9_13
Publisher Name: Springer, Boston, MA
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