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.
Authors
- Anthony Peter Goldstone (ORCID: https://orcid.org/0000-0001-8179-7071)
- Philippe Froguel (ORCID: https://orcid.org/0000-0003-2972-0784)
- Roohia Khanam (ORCID: https://orcid.org/0000-0001-6826-7471)
- Stephen O’Rahilly (ORCID: https://orcid.org/0000-0003-2199-4449)
- Jaida Manzoor (ORCID: https://orcid.org/0000-0003-2078-5901)
- Brian Y.H. Lam (ORCID: https://orcid.org/0000-0002-3638-9025)
- Amélie Bonnefond (ORCID: https://orcid.org/0000-0001-9976-3005)
- Sherine Awad
- Vladimı́r Saudek (ORCID: https://orcid.org/0000-0003-4980-9057)
- Sadia Saeed (ORCID: https://orcid.org/0000-0003-3144-7772)
- Anna‐Maria Siegert (ORCID: https://orcid.org/0000-0002-8694-5894)
- Souhila Amanzougarene
- Muhammad Arslan (ORCID: https://orcid.org/0000-0002-9620-6710)
- Giles S.H. Yeo (ORCID: https://orcid.org/0000-0001-8823-3615)
- Emmanuel Vaillant
- Hina Ayesha
- Bénédicte Toussaint
- Qasim M. Janjua (ORCID: https://orcid.org/0000-0001-7896-8802)
- Mehdi Derhourhi (ORCID: https://orcid.org/0000-0001-5020-5379)
- Waqas Khan (ORCID: https://orcid.org/0000-0001-5972-1476)
- Emmanuel Buse Falay
- Nosheen Ramzan (ORCID: https://orcid.org/0000-0002-5868-2919)
- Y.C. Loraine Tung
Institutions
- 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)
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