Cited by 241Genomic variations and chromosomal abnormalitiesGenetics and Neurodevelopmental DisordersGenomics and Rare Diseases

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Smith–Magenis syndrome

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Elsea, Sarah H, Girirajan, Santhosh·2008·European Journal of Human Genetics

DOI 10.1038/sj.ejhg.5202009

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Abstract

Smith-Magenis syndrome (SMS) is a complex neurobehavioral disorder caused by haploinsufficiency of the retinoic acid-induced 1 (RAI1) gene on chromosome 17p11.2. Diagnostic strategies include molecular identification of a 17p11.2 microdeletion encompassing RAI1 or a mutation in RAI1. G-banding and fluorescent in situ hybridization (FISH) are the classical methods used to detect the SMS deletions, while multiplex ligation-dependent probe amplification (MLPA) and real-time quantitative PCR are the newer, cost-effective, and high-throughput technologies. Most SMS features are due to RAI1 haploinsufficiency, while the variability and severity of the disorder are modified by other genes in the 17p11.2 region. The functional role for RAI1 is not completely understood, but it is likely involved in transcription, based on homology and preliminary studies. Management of SMS is primarily a multidisciplinary approach and involves treatment for sleep disturbance, speech and occupational therapies, minor medical interventions, and management of behaviors.

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Smith AC, Dykens E, Greenberg F : Sleep disturbance in Smith–Magenis syndrome (del 17 p11.2). Am J Med Genet 1998; 81: 186–191. · DOI

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Authors: Elsea, S. H., & Girirajan, S.
Affiliations: Virginia Commonwealth University (US)
Corresponding author: Elsea, Sarah H
ORCID: Elsea, Sarah H
Girirajan, Santhosh
Venue: European Journal of Human Genetics
Publisher: Springer Science and Business Media LLC
Published: 2008-01-30
Volume: 16
Issue: 4
Pages: 412-421
ISSN: 1018-4813 (ISSN-L)
1476-5438
DOI: 10.1038/sj.ejhg.5202009
OpenAlex: W2116514710
Cited by: 241
References: 130
Citations by year: 2026: 5 · 2025: 5 · 2024: 14 · 2023: 5 · 2022: 12 · 2021: 10 · 2020: 10 · 2019: 8 · 2018: 12 · 2017: 17 · 2016: 14 · 2015: 17 · 2014: 14 · 2013: 17 · 2012: 17
FWCI: 1.84
Type: journal article
Language: en
Open access: bronze
doi.org
Licence: www.springer.com/tdm (tdm)
Locations: European Journal of Human Genetics (publishedVersion)
PubMed (publishedVersion)
Funders: Virginia Commonwealth University
National Institutes of Health (NIH-R01)
Eunice Kennedy Shriver National Institute of Child Health and Human Development (R01HD38534, R01HD038534)
Topics: Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomic variations and chromosomal abnormalities
Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomics and Rare Diseases
Keywords: Smith-Magenis syndrome, RAI1 gene, haploinsufficiency, chromosome 17p11.2, microdeletion, neurobehavioral disorders, diagnostic testing, fluorescence in situ hybridization, multiplex ligation-dependent probe amplification, real-time quantitative PCR, sleep disorders, multidisciplinary management
MeSH terms: Abnormalities, Multiple, Chromosomes, Human, Pair 17, Humans, Intellectual Disability, Syndrome, Transcription Factors, Trans-Activators, Craniofacial Abnormalities

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