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

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Biallelic variants in SREK1 downregulating SNORD115 and SNORD116 cause a Prader-Willi-like syndrome.pdf (1.21 MB)

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Author(s)

Saeed, Sadia

Siegert, Anna-Maria

Tung, YC Loraine

Khanam, Roohia

Janjua, Qasim M

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Type

Journal Article

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.

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Date Issued

2025-08-15

Date Acceptance

2025-06-06

Citation

Journal of Clinical Investigation, 2025, 135 (16)

URI

https://hdl.handle.net/10044/1/124258

URL

https://doi.org/10.1172/jci191008

DOI

10.1172/jci191008

ISSN

0021-9738

Publisher

American Society for Clinical Investigation

Start Page

e191008

Journal / Book Title

Journal of Clinical Investigation

Volume

135

Issue

16

Copyright Statement

Copyright: © 2025, Saeed et al. This is an open access article published under the terms of the Creative Commons Attribution 4.0 International License.

License URL

http://creativecommons.org/licenses/by/4.0/

Identifier

https://www.ncbi.nlm.nih.gov/pubmed/40549565

PII: 191008

Subjects

Cell biology

Genetics

Molecular genetics

Monogenic diseases

Neuroscience

Obesity

Female

Humans

Male

Alleles

Down-Regulation

Obesity

Prader-Willi Syndrome

RNA, Small Nucleolar

Chromosome Disorders

Hypopituitarism

Developmental Disabilities

Imprinting Disorders

Facies

Publication Status

Published

Coverage Spatial

United States

Article Number

e191008

Date Publish Online

2025-06-22