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Mutations in RAI1 associated with Smith-Magenis syndrome.

Nature genetics | Apr 31, 2003

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.

Pubmed ID: 12652298 RIS Download

Mesh terms: Abnormalities, Multiple | Amino Acid Sequence | Animals | Base Sequence | Chromosome Deletion | Chromosomes, Human, Pair 17 | DNA Mutational Analysis | Family Health | Female | Frameshift Mutation | Humans | In Situ Hybridization, Fluorescence | Intellectual Disability | Male | Mental Disorders | Models, Genetic | Molecular Sequence Data | Mutation | Pedigree | Phenotype | Proteins | Self-Injurious Behavior | Sleep Wake Disorders | Syndrome | Transcription Factors

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