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Article

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

The Journal of clinical investigation - 15 Aug 2025

Saeed Sadia, Siegert Anna-Maria, Tung Y C Loraine, Khanam Roohia, Janjua Qasim M, Manzoor Jaida, Derhourhi Mehdi, Toussaint Bénédicte, Lam Brian Yh, Mahmoud Sherine Awad, Vaillant Emmanuel, Buse Falay Emmanuel, Amanzougarene Souhila, Ayesha Hina, Khan Waqas I, Ramazan Nosheen, Saudek Vladimir, O'Rahilly Stephen, Goldstone Anthony P, Arslan Muhammad, Bonnefond Amélie, Froguel Philippe, Yeo Giles Sh

Abstract excerpt

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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Identifiers

PMID: 40549565
DOI: 10.1172/JCI191008
PMCID: PMC12352886

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