Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

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

American journal of medical genetics. Part A - 1 Jan 2017

Acquaviva Fabio, Sana Maria Elena, Della Monica Matteo, Pinelli Michele, Postorivo Diana, Fontana Paolo, Falco Maria Teresa, Nardone Anna Maria, Lonardo Fortunato, Iascone Maria, Scarano Gioacchino

Abstract excerpt

Smith-Magenis syndrome (SMS) is a complex genetic disorder caused by interstitial 17p11.2 deletions encompassing multiple genes, including the retinoic acid induced 1 gene-RAI1-or mutations in RAI1 itself. The clinical spectrum includes developmental delay, cognitive impairment, and behavioral abnormalities, with distinctive physical features that become more evident with age. No patients have been reported to...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Comparative Genomic Hybridization
Share to Exome

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Facies

Share to Intracellular Signaling Peptides and Proteins

Share to Mothers

Share to Nuclear Family

Share to Repressor Proteins

Share to Smith-Magenis Syndrome

Source

Identifiers

PMID: 27683195
DOI: 10.1002/ajmg.a.37989

Genes

RAI1
SMS
CHRNA7

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

First evidence of Smith-Magenis syndrome in mother and daughter due to a novel RAI mutation.PMID 27683195Read ↗

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

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

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

A de novo mutation (p.S1419F) of Retinoic acid induced 1 is responsible for a patient with Smith-Magenis syndrome exhibiting schizophrenia.Semantic proximity Read ↗

A unique Smith-Magenis patient with a de novo intragenic deletion on the maternally inherited overexpressed RAI1 allele.Semantic proximity Read ↗

Mutations of RAI1, a PHD-containing protein, in nondeletion patients with 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 ↗

A case of Smith-Magenis syndrome with skin manifestations caused by a novel locus mutation in the RAI1 gene.Semantic proximity Read ↗

Neurodevelopmental Disorders Associated with Abnormal Gene Dosage: Smith–Magenis and Potocki–Lupski SyndromesSemantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.