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Article

Mutations in RAI1 associated with Smith-Magenis syndrome.

Nature genetics - 1 Apr 2003

Slager Rebecca E, Newton Tiffany Lynn, Vlangos Christopher N, Finucane Brenda, Elsea Sarah H

Abstract excerpt

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...

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Share to Abnormalities, Multiple
Share to Chromosome Deletion
Share to Chromosomes, Human, Pair 17

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 12652298
DOI: 10.1038/ng1126

Genes

SMS
RAI1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Mutations in RAI1 associated with Smith-Magenis syndrome.PMID 12652298Read ↗

RAI1 variations in Smith-Magenis syndrome patients without 17p11.2 deletions.Semantic proximity Read ↗

Detection of classical 17p11.2 deletions, an atypical deletion and RAI1 alterations in patients with features suggestive of Smith-Magenis syndrome.Semantic proximity Read ↗

Smith-Magenis Syndrome—Clinical Review, Biological Background and Related DisordersSemantic proximity Read ↗

Mutations of RAI1, a PHD-containing protein, in nondeletion patients with Smith-Magenis syndrome.Semantic proximity Read ↗

RAI1 point mutations, CAG repeat variation, and SNP analysis in non-deletion Smith-Magenis syndrome.Semantic proximity Read ↗

Genotype-phenotype correlation in Smith-Magenis syndrome: evidence that multiple genes in 17p11.2 contribute to the clinical spectrum.Semantic proximity Read ↗

Molecular analysis of the Retinoic Acid Induced 1 gene (RAI1) in patients with suspected Smith-Magenis syndrome without the 17p11.2 deletion.Semantic proximity Read ↗

Array comparative genomic hybridisation of 52 subjects with a Smith-Magenis-like phenotype: identification of dosage sensitive loci also associated with schizophrenia, autism, and developmental delay.Semantic proximity Read ↗

Novel <em>De Novo RAI1</em>:c.2736delC Variant Identified in A Child with Features of Smith-Magenis: Insight from Whole Genomes Joint AnalysisSemantic proximity Read ↗

First evidence of Smith-Magenis syndrome in mother and daughter due to a novel RAI mutation.Semantic proximity Read ↗

Frameshift mutation hotspot identified in Smith-Magenis syndrome: case report and review of literature.Semantic proximity Read ↗

Delayed diagnosis in a house of correction: Smith-Magenis syndrome due to a de novo nonsense RAI1 variant.Semantic proximity Read ↗

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