Nature Genetics
33, 466 - 468 (2003)
Published online: 24 March 2003; | doi:10.1038/ng1126
Mutations in RAI1 associated with Smith−Magenis syndromeRebecca E. Slager1, Tiffany Lynn Newton2, Christopher N. Vlangos1, Brenda Finucane3
& Sarah H. Elsea1, 21
Genetics Graduate Program, S-320 Plant Biology Building, Michigan State University, East Lansing, Michigan 48823, USA. 2
Departments of Zoology and Pediatrics/Human Development, Michigan State University, East Lansing, Michigan 48823, USA. 3
Elwyn Training and Research Institute, Elwyn, Pennsylvania 19063, USA.
Correspondence should be addressed to Sarah H. Elsea elsea@msu.eduSmith−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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