Mutations in RAI1 associated with Smith-Magenis syndrome.
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.
Slager
Rebecca E
RE
Genetics Graduate Program, S-320 Plant Biology Building, Michigan State University, East Lansing, Michigan 48823, USA.
Newton
Tiffany Lynn
TL
Vlangos
Christopher N
CN
Finucane
Brenda
B
Elsea
Sarah H
SH
D000015:Abnormalities, Multiple / Q000235:genetics*; D000595:Amino Acid Sequence; D000818:Animals; D001483:Base Sequence; D002872:Chromosome Deletion; D002886:Chromosomes, Human, Pair 17; D004252:DNA Mutational Analysis; D005192:Family Health; D005260:Female; D016368:Frameshift Mutation; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D008607:Intellectual Disability / Q000235:genetics*; D008297:Male; D001523:Mental Disorders / Q000235:genetics; D008957:Models, Genetic; D008969:Molecular Sequence Data; D009154:Mutation; D010375:Pedigree; D010641:Phenotype; D011506:Proteins / Q000235:genetics*; D016728:Self-Injurious Behavior / Q000235:genetics; D012893:Sleep Wake Disorders / Q000235:genetics; D013577:Syndrome; D015534:Trans-Activators; D014157:Transcription Factors
D011506:Proteins; C431552:RAI1 protein, human; D015534:Trans-Activators; D014157:Transcription Factors