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Nat Genet. 2003 Apr;33(4):466-8. Epub 2003 Mar 24.

Mutations in RAI1 associated with Smith-Magenis syndrome.

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  • 1Genetics Graduate Program, S-320 Plant Biology Building, Michigan State University, East Lansing, Michigan 48823, USA.


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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