Mutations in RAI1 associated with Smith–Magenis syndrome

@article{Slager2003MutationsIR,
  title={Mutations in RAI1 associated with Smith–Magenis syndrome},
  author={Rebecca E. Slager and T L Newton and Christopher N Vlangos and Brenda Finucane and Sarah H Elsea},
  journal={Nature Genetics},
  year={2003},
  volume={33},
  pages={466-468}
}
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… CONTINUE READING

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