Biallelic variants in SREK1 downregulating SNORD115 and SNORD116 cause a Prader-Willi–like syndrome

Biallelic variations in SREK1 reduce SNORD115/116 expression, linking severe obesity and Prader-Willi-like traits, offering genetic and molecular insights into a new form of syndromic obesity.

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Publication Details

Journal
Journal of Clinical Investigation
Published
2025-06-22
DOI
https://doi.org/10.1172/jci191008
Citations
1
Primary Topic
Genetic Syndromes and Imprinting
Type
article
Field-Weighted Citation Impact
1.82
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Biallelic variants in SREK1 downregulating SNORD115 and SNORD116 cause a Prader-Willi–like syndrome

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article

Biallelic variants in SREK1 downregulating SNORD115 and SNORD116 cause a Prader-Willi–like syndrome

Anthony Peter Goldstone, Philippe Froguel, Roohia Khanam, Stephen O’Rahilly, Jaida Manzoor, Brian Y.H. Lam, Amélie Bonnefond, Sherine Awad, Vladimı́r Saudek, Sadia Saeed, Anna‐Maria Siegert, Souhila Amanzougarene, Muhammad Arslan, Giles S.H. Yeo, Emmanuel Vaillant, Hina Ayesha, Bénédicte Toussaint, Qasim M. Janjua, Mehdi Derhourhi, Waqas Khan, Emmanuel Buse Falay, Nosheen Ramzan, Y.C. Loraine Tung
article en
1 citations

Abstract

Biallelic variations in SREK1 reduce SNORD115/116 expression, linking severe obesity and Prader-Willi-like traits, offering genetic and molecular insights into a new form of syndromic obesity.

Journal of Clinical InvestigationVol. 135(16)
Centre National de la Recherche Scientifique (FR), Inserm (FR), Punjab Medical College (PK), Université de Lille (FR), Forman Christian College (PK), Institut Pasteur de Lille (FR), Centre Hospitalier Universitaire de Lille (FR), Wellcome/MRC Institute of Metabolic Science (GB), Mayo Hospital (PK), European Genomic Institute for Diabetes (FR), Imperial College London (GB), Medical Research Council (GB)
Zero hunger
Openalex Percentile: Top 15%
Genetic Syndromes and Imprinting
1.82
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