Smith-Magenis syndrome (SMS) is a complex multiple congenital anomaly and mental retardation syndrome caused by an interstitial deletion of chromosome 17p11.2.
Synonyms and Related Disorders
Chromosome 17p11.2 deletion syndrome
Genetics/Basic Defects
- 1.
Inheritance.
- a.
Autosomal dominant inheritance in virtually all cases of SMS occurring de novo
- b.
Rare familial chromosome complex rearrangements leading to deletion(17)(p11.2) and SMS
- a.
- 2.
Caused by an interstitial deletion of 17p11.2 in the majority of cases (Potocki et al. 2003).
- a.
A common deletion size observed in the majority of patients, derived from nonallelic homologous recombination between low-copy repeat gene clusters during either maternal or paternal gametogenesis
- b.
Either smaller or larger sized deletions in about 20–25% of patients
- a.
- 3.
Considered a contiguous gene syndrome.
- a.
Haploinsufficiency of multiple functionally unrelated genes located in close proximity is responsible for the phenotype.
...
- a.
This is a preview of subscription content, log in via an institution to check access.
References
Allanson, J. E., Greenberg, F., & Smith, A. C. (1999). The face of Smith-Magenis syndrome: A subjective and objective study. Journal of Medical Genetics, 36, 394–397.
Boddaert, N., De Leersnyder, H., Bourgeois, M., et al. (2004). Anatomical and functional brain imaging evidence of lenticulo-insular anomalies in Smith Magenis syndrome. NeuroImage, 21, 1021–1025.
Chen, K.-S., Potocki, L., & Lupski, J. R. (1996). The Smith-Magenis syndrome (del(17)(p11.2)): Clinical review and molecular advances. Mental Retardation and Developmental Disabilities Research Reviews, 49, 1207–1218.
De Leersnyder, H., De Blois, M. C., Claustrat, B., et al. (2001a). Inversion of the circadian rhythm of melatonin in the Smith-Magenis syndrome. Journal of Pediatrics, 139, 111–116.
De Leersnyder, H., de Blois, M. C., Vekemans, M., et al. (2001b). β1-adrenergic antagonists improve sleep and behavioural disturbances in a circadian disorder. Smith-Magenis syndrome. Journal of Medical Genetics, 38, 586–590.
Dykens, E. M., & Smith, A. C. (1998). Distictiveness and correlates of maladaptive behaviour in children and adolescents with Smith-Magenis syndrome. Journal of Intellectual Disability Research, 42, 481–489.
Dykens, E. M., Finucane, B. M., & Gayley, C. (1997). Brief report: Cognitive and behavioral profiles in persons with Smith-Magenis syndrome. Journal of Autism and Developmental Disorders, 27, 203–211.
Elsea, S. H., & Girirajan, S. (2008). Smith-Magenis syndrome. European Journal of Human Genetics, 16, 412–421.
Elsea, S. H., Purandare, S. M., Adell, R. A., et al. (1997). Definition of the critical interval for Smith-Magenis syndrome. Cytogenetics and Cell Genetics, 79, 276–281. Published erratum appears in Cytogenet Cell Genet 81:67, 1998.
Girirajan, S., Vlangos, C. N., Szomju, B. B., et al. (2006). Genotype-phenotype correlation in Smith-Magenis syndrome: Evidence that multiple genes in 17p11.2 contribute to the clinical spectrum. Genetics in Medicine, 8, 417–427.
Greenberg, F., Guzzetta, V., Montes de Oca-Luna, R., et al. (1991). Molecular analysis of the Smith-Magenis syndrome: A possible contiguous-gene syndrome associated with del(17)(p11.2). American Journal of Human Genetics, 49, 1207–1218.
Greenberg, F., Lewis, R. A., Potocki, L., et al. (1996). Multidisciplinary clinical study of Smith-Magenis syndrome (deletion 17q11.2). American Journal of Medical Genetics, 62, 274–254.
Juyal, R. C., Figuera, L. E., Hauge, X., et al. (1996). Molecular analyses of 17p11.2 deletions in 62 Smith-Magenis syndrome patients. American Journal of Human Genetics, 58, 998–1007.
Liburd, N., Ghosh, M., Riazuddin, S., et al. (2001). Novel mutations of MYO15A associated with profound deafness in consanguineous families and moderately severe hearing loss in a patient with Smith-Magenis syndrome. Human Genetics, 109, 535–541.
Potocki, L., Glaze, D., Tan, D. X., et al. (2000). Circadian rhythm abnormalities of melatonin in Smith-Magenis syndrome. Journal of Medical Genetics, 37, 428–433.
Potocki, L., Shaw, C. J., Stankiewicz, P., et al. (2003). Variability in clinical phenotype despite common chromosomal deletion in Smith-Magenis syndrome [del(17)(p11.2p11.2)]. Genetics in Medicine, 5, 430–434.
Seranski, P., Hoff, C., Radelof, U., et al. (2001). RAI1 is a novel polyglutamine encoding gene that is deleted in Smith-Magenis syndrome patients. Gene, 270, 69–76.
Slager, R. E., Newton, T. L., Vlangos, C. N., et al. (2003). Mutations in RAI1 associated with Smith-Magenis syndrome. Nature Genetics, 33, 466–468.
Smith, A. C., Dykens, E., & Greenberg, F. (1998a). Behavioral phenotype of Smith-Magenis syndrome (del(17p11.2)). American Journal of Medical Genetics, 81, 179–185.
Smith, A. C., Dykens, E., & Greenberg, F. (1998b). Sleep disturbance in Smith-Magenis syndrome (del(17p11.2). Amrican Journal of Medical Genetics, 81, 186–191.
Smith, A. C. M., MacGavran, L., Waldstein, G., et al. (1982). Deletion of the 17 short arm in two patients with facial cleft. American Journal of Human Genetics, 34, 410A.
Smith, A. C. M., MacGravran, L., Robinson, J., et al. (1986). Interstitial deletion of (17)(p11.2p11.2) in nine patients. American Journal of Medical Genetics, 24, 393–414.
Smith, A. C. M., Gropman, A. L., Bailey-Wilson, J. E., et al. (2002). Hypercholesterolemia in children with Smith-Magenis syndrome: del (17)(p11.2p11.2). Genetics in Medicine, 4, 118–125.
Smith, A. C. M., Boyd, K., Elsea, S. H., et al. (2010). Smith-Magenis syndrome. GeneReviews. Updated January 7, 2010. Available at: http://www.ncbi.nlm.nih.gov/books/NBK1310/
Spilsbury, J., & Mohanty, K. (2003). The orthopaedic manifestations of Smith-Magenis syndrome. Journal of Pediatric Orthopaedics. Part B, 12, 22–26.
Straton, R. F., Dobyns, W. B., Greenberg, F., et al. (1986). Interstitial deletion of (17)(p11.2p11.2): Report of six additional patients with a new chromosome deletions syndrome. American Journal of Medicine in Genetics, 24, 421–432.
Truong, H. T., Dudding, T., Blanchard, C. L., et al. (2010). Frameshift mutation hotspot identified in Smith-Magenis syndrome and review of literature. BMC Medical Genetics, 11, 142.
Willekens, D., De Cock, P., & Fryns, J. P. (2000). Three young children with Smith-Magenis syndrome: their distinct, recognisable behavioural phenotype as the most important clinical symptoms. Genetic Counseling, 11, 103–110.
Zori, R. T., Lupski, J. R., Heju, Z., et al. (1993). Clinical, cytogenetic, and molecular evidence for an infant with Smith-Magenis syndrome born from a mother having a mosaic 17p11.2p12 deletion. American Journal of Medical Genetics, 47, 504–511.
Editor information
Editors and Affiliations
Rights and permissions
Copyright information
© 2012 Springer Science+Business Media, LLC
About this entry
Cite this entry
(2012). Smith-Magenis Syndrome. In: Chen, H. (eds) Atlas of Genetic Diagnosis and Counseling. Springer, New York, NY. https://doi.org/10.1007/978-1-4614-1037-9_219
Download citation
DOI: https://doi.org/10.1007/978-1-4614-1037-9_219
Publisher Name: Springer, New York, NY
Print ISBN: 978-1-4614-1036-2
Online ISBN: 978-1-4614-1037-9
eBook Packages: Biomedical and Life SciencesReference Module Biomedical and Life Sciences