ArticleEuropean journal of human genetics : EJHG2015
Highly restricted deletion of the SNORD116 region is implicated in Prader-Willi Syndrome.
Article in European journal of human genetics : EJHG, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT01298180 (Is There a Sensibility Increased in the Growth Hormone at Child With Prader-Willi Syndrome?), which is not on this map. Cited by 106 papers.
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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Is There a Sensibility Increased in the Growth Hormone at Child With Prader-Willi Syndrome?
Who cites it
106 citing papers in PubMed, 175 citations in OpenAlex.
- Article
- Placental defects revealed by modelling Prader-Willi syndrome in mice.Disease models & mechanisms · 2026Article
- A de novo genome assembly of an Angelman syndrome pig (Sus scrofa domesticus) model to resolve SNHG14.The Journal of heredity · 2026Article
- Copy number evolution of conserved noncoding RNA gene families across mammals.Mammalian genome : official journal of the International Mammalian Genome Society · 2026Article
- Review
- RNAi-Induced Expression of Paternal UBE3A.Genes · 2026Article
- Genome-wide profiling of RNA 2'-O-methylation in neurons and identification of orphan snoRNA targets.Research square · 2026Article
- Multi-targeting zinc finger nuclease vector unsilences paternal UBE3A in a mouse model of Angelman syndrome.Gene therapy · 2026Article
- Genome-wide profiling of RNA 2'-bioRxiv : the preprint server for biology · 2025Article
- Systematic mapping of small nucleolar RNA interactions in human cells.RNA biology · 2025Article
- Brain-wide Genome Editing via STEP-RNPs for Treatment of Angelman Syndrome.bioRxiv : the preprint server for biology · 2025Article
- AAV-dCas9 vector unsilences paternal Ube3a in neurons by impeding Ube3a-ATS transcription.Communications biology · 2025Article
- Neuroendocrinology and the Genetics of Obesity.Endocrinology · 2025Review
- Small Nucleolar RNAs: Biological Functions and Diseases.MedComm · 2025Review
- Light and sex modifybioRxiv : the preprint server for biology · 2025Article
- Selective changes in vasopressin neurons and astrocytes in the suprachiasmatic nucleus of Prader-Willi syndrome subjects.Journal of neuroendocrinology · 2025Article
- Loss of Snord116 protects cardiomyocyte kinetics during ischemic stress.Journal of molecular and cellular cardiology plus · 2025Article
- Systematic assessment of structural variant annotation tools for genomic interpretation.Life science alliance · 2025Article
- Small Nucleolar RNAs and the Brain: Growing Evidence Supporting Their Role in Psychiatric Disorders.Biological psychiatry global open science · 2025Review
- Activation of the imprinted Prader-Willi syndrome locus by CRISPR-based epigenome editing.Cell genomics · 2025Article
46 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
13 authors at 5 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The SNORD116 locus lies in the 15q11-13 region of paternally expressed genes implicated in Prader-Willi Syndrome (PWS), a complex disease accompanied by obesity and severe neurobehavioural disturbances. Cases of PWS patients with a deletion encompassing the SNORD116 gene cluster, but preserving the expression of flanking genes, have been described. We report a 23-year-old woman who presented clinical criteria of PWS, including the behavioural and nutritional features, obesity, developmental delay and endocrine dysfunctions with hyperghrelinemia. We found a paternally transmitted highly restricted deletion of the SNORD116 gene cluster, the shortest described to date (118 kb). This deletion was also present in the father. This finding in a human case strongly supports the current hypothesis that lack of the paternal SNORD116 gene cluster has a determinant role in the pathogenesis of PWS. Moreover, targeted analysis of the SNORD116 gene cluster, complementary to SNRPN methylation analysis, should be carried out in subjects with a phenotype suggestive of PWS.
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