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- Title
Mutations in RAI1 associated with Smith-Magenis syndrome.
- Authors
Slager, Rebecca E; Newton, Tiffany Lynn; Vlangos, Christopher N; Finucane, Brenda; Elsea, Sarah H
- 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.
- Publication
Nature genetics, 2003, Vol 33, Issue 4, p466
- ISSN
1061-4036
- Publication type
Journal Article
- DOI
10.1038/ng1126