Mutations in RAI1 associated with Smith-Magenis syndrome
Abstract
Smith-Magenis syndrome (SMS) is a mental retardation syndrome associated with deletions involving chromosome 17p11.2. Persons with SMS have characteristic behavioral abnormalities, including self-injurious behaviors and sleep disturbance, and distinct craniofacial and skeletal anomalies. We identified dominant frameshift mutations leading to protein truncation in RAI1 in three individuals who have phenotypic features consistent with SMS but do not have 17p11.2 deletions detectable by standard fluorescence in situ hybridization techniques.
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Features of Angelman, Phelan McDermid, and Smith-Magenis syndromes can be recapitulated by point mutations in UBE3A, SHANK3, and RAI1 respectively.
“For example, clinical features of Angelman, Phelan McDermid and Smith-Magenis Syndromes, which are caused by large deletions of multiple genes, can be recapitulated by point mutations in UBE3A (Fang et al., 1999) and SHANK3 (Bonaglia et al., 2006) and RAI1 (Slager et al., 2003) respectively.”
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- Authors
- Slager, R. E., Newton, T. L., Vlangos, C. N., Finucane, B., & Elsea, S. H.
- Affiliations
- Michigan State University (US)
- Elwyn (US)
- Corresponding author
- Elsea, Sarah H.
- Venue
- Nature Genetics
- Published
- 2003-03-24
- Volume
- 33
- Issue
- 4
- Pages
- 466-468
- ISSN
- 1061-4036 (ISSN-L)
- 1546-1718
- OpenAlex
- W1988293854
- Cited by
- 362
- References
- 15
- Citations by year
- 2026: 11 · 2025: 8 · 2024: 20 · 2023: 14 · 2022: 19 · 2021: 17 · 2020: 14 · 2019: 9 · 2018: 14 · 2017: 16 · 2016: 20 · 2015: 9 · 2014: 17 · 2013: 15 · 2012: 16
- FWCI
- 7.83
- Type
- journal article
- Language
- en
- Open access
- closed
- Licence
- www.springer.com/tdm (tdm)
- Locations
- Nature Genetics (publishedVersion)
- PubMed (publishedVersion)
- Funders
- Michigan State University
- National Institutes of Health
- College of Engineering, Michigan State University
- College of Natural Science, Michigan State University
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomic variations and chromosomal abnormalities
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomics and Rare Diseases
- Keywords
- Smith-Magenis syndrome, RAI1, chromosome 17p11.2, frameshift mutation, protein truncation, intellectual disability, self-harm, sleep disorders, craniofacial anomalies, skeletal abnormalities, genotype-phenotype correlation
- MeSH terms
- Abnormalities, Multiple, Amino Acid Sequence, Animals, Base Sequence, Mental Disorders, Chromosome Deletion, Chromosomes, Human, Pair 17, DNA Mutational Analysis, Family Health, Female, Humans, Male, Intellectual Disability, Models, Genetic, Molecular Sequence Data, Mutation, Pedigree, Phenotype, Proteins, Sleep Wake Disorders, Syndrome, Transcription Factors, Trans-Activators, Frameshift Mutation, Self-Injurious Behavior, In Situ Hybridization, Fluorescence
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