ArticleHuman genetics2017
Exome analysis of Smith-Magenis-like syndrome cohort identifies de novo likely pathogenic variants.
Article in Human genetics, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers.
What it found
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Who cites it
20 citing papers in PubMed, 28 citations in OpenAlex.
- Characterization of a novel inherited splice-site variant inBiochemistry and biophysics reports · 2026Article
- Rare protein-disrupting variants inmedRxiv : the preprint server for health sciences · 2026Article
- A toxic gain-of-function variant in MAPK8IP3 provides insights into JIP3 cellular roles.JCI insight · 2025Article
- NovelJournal of personalized medicine · 2024Article
- Article
- UNC-16 interacts with LRK-1 and WDFY-3 to regulate the termination of axon growth.bioRxiv : the preprint server for biology · 2024Article
- Vulto-van Silfhout-de Vries syndrome caused byFrontiers in neurology · 2023Article
- Review
- Rare germline heterozygous missense variants in BRCA1-associated protein 1, BAP1, cause a syndromic neurodevelopmental disorder.American journal of human genetics · 2022Article
- Transmission of a Novel Imprinting Center Deletion Associated With Prader-Willi Syndrome Through Three Generations of a Chinese Family: Case Presentation, Differential Diagnosis, and a Lesson Worth Thinking About.Frontiers in genetics · 2021Article
- The necdin interactome: evaluating the effects of amino acid substitutions and cell stress using proximity-dependent biotinylation (BioID) and mass spectrometry.Human genetics · 2020Article
- De Novo KAT5 Variants Cause a Syndrome with Recognizable Facial Dysmorphisms, Cerebellar Atrophy, Sleep Disturbance, and Epilepsy.American journal of human genetics · 2020Article
- Psychiatric features and variable neurodevelopment outcome in four females with IQSEC2 spectrum disorder.Journal of genetics · 2020Article
- De novo and biallelic DEAF1 variants cause a phenotypic spectrum.Genetics in medicine : official journal of the American College of Medical Genetics · 2019Article
- Heterozygous loss of function ofLife science alliance · 2019Article
- Preclinical Testing in Translational Animal Models of Prader-Willi Syndrome: Overview and Gap Analysis.Molecular therapy. Methods & clinical development · 2019Review
- Molecular basis for phenotypic similarity of genetic disorders.Genome medicine · 2019Article
- IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients.Genetics in medicine : official journal of the American College of Medical Genetics · 2019Article
- De Novo Variants in MAPK8IP3 Cause Intellectual Disability with Variable Brain Anomalies.American journal of human genetics · 2019Article
- Identification of a de novo splicing variant in the Coffin-Siris gene, SMARCE1, in a patient with Angelman-like syndrome.Molecular genetics & genomic medicine · 2019Article
Corrections and comments
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Authors and funding
15 authors at 4 institutions in 1 country.
Funding
Abstract
Smith-Magenis syndrome (SMS), a neurodevelopmental disorder characterized by dysmorphic features, intellectual disability (ID), and sleep disturbances, results from a 17p11.2 microdeletion or a mutation in the RAI1 gene. We performed exome sequencing on 6 patients with SMS-like phenotypes but without chromosomal abnormalities or RAI1 variants. We identified pathogenic de novo variants in two cases, a nonsense variant in IQSEC2 and a missense variant in the SAND domain of DEAF1, and candidate de novo missense variants in an additional two cases. One candidate variant was located in an alpha helix of Necdin (NDN), phased to the paternally inherited allele. NDN is maternally imprinted within the 15q11.2 Prader-Willi Syndrome (PWS) region. This can help clarify NDN's role in the PWS phenotype. No definitive pathogenic gene variants were detected in the remaining SMS-like cases, but we report our findings for future comparison. This study provides information about the inheritance pattern and recurrence risk for patients with identified variants and demonstrates clinical and genetic overlap of neurodevelopmental disorders. Identification and characterization of ID-related genes that assist in development of common developmental pathways and/or gene-networks, may inform disease mechanism and treatment strategies.
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Registered trials
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