Distinct Neuropsychiatric Profiles Associated With 17p11.2 Deletions and RAI1 Variants in Smith-Magenis Syndrome.

doi:10.1002/ajmg.a.70205

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Article

Distinct Neuropsychiatric Profiles Associated With 17p11.2 Deletions and RAI1 Variants in Smith-Magenis Syndrome.

American journal of medical genetics. Part A - 1 Oct 2026

Blanc Albin, Nemos Christophe, Bonnet Céline, Renaud Mathilde, Chapuis Sandra, Boiroux Pauline, Babinet Marie-Noëlle, Demily Caroline

Abstract excerpt

Smith-Magenis syndrome (SMS) results from either a recurrent 17p11.2 deletion or pathogenic variants in the retinoic acid induced 1 gene (RAI1). While neurodevelopmental impairment and behavioral dysregulation are well recognized, systematic genotype-stratified analyses across psychiatric domains remain limited. We conducted a retrospective genotype-stratified study of 52 individuals with molecularly confirmed...

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Topics

Humans
Smith-Magenis Syndrome
Male
Female
Chromosomes, Human, Pair 17
Child

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

Chromosome Deletion

Adolescent

Child, Preschool

Trans-Activators

Transcription Factors

Intellectual Disability

Phenotype

Genetic Association Studies

Adult

Genotype

Retrospective Studies

Source

Open in PubMed

Identifiers

PMID: 42178606
DOI: 10.1002/ajmg.a.70205

Genes

RAI1
SMS

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 23 Oct 2026.

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