Smith-Magenis syndrome

Sarah H. Elsea, S. Santhosh Girirajan

Research output: Contribution to journalArticle

140 Citations (Scopus)

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.

Original languageEnglish (US)
Pages (from-to)412-421
Number of pages10
JournalEuropean Journal of Human Genetics
Volume16
Issue number4
DOIs
StatePublished - Apr 1 2008

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Smith-Magenis Syndrome
Tretinoin
Haploinsufficiency
Speech Therapy
Occupational Therapy
Multiplex Polymerase Chain Reaction
Fluorescence In Situ Hybridization
Genes
Real-Time Polymerase Chain Reaction
Sleep
Chromosomes
Technology
Costs and Cost Analysis
Mutation

All Science Journal Classification (ASJC) codes

  • Genetics
  • Genetics(clinical)

Cite this

Elsea, Sarah H. ; Girirajan, S. Santhosh. / Smith-Magenis syndrome. In: European Journal of Human Genetics. 2008 ; Vol. 16, No. 4. pp. 412-421.
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Smith-Magenis syndrome. / Elsea, Sarah H.; Girirajan, S. Santhosh.

In: European Journal of Human Genetics, Vol. 16, No. 4, 01.04.2008, p. 412-421.

Research output: Contribution to journalArticle

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