Cumulative Effects of Genetic Variants Detected in a Child with Early-Onset Non-Syndromic Obesity Due to SIM-1 Gene Mutation
The case presents the association of SIM-1 gene mutation with other obesity-related variants. The interactive and cumulative effects of the identified variants could coexist in the determination of severe obesity through abnormalities in the development and function of hypothalamic melanocortin circuits related to energy homeostasis. Although the pathogenic mutation of the <i>SIM1</i> gene plays the main role, the complex clinical picture may be related to the possible cumulative effect of the other genetic mutations.
Authors
- Małgorzata Waśniewska (ORCID: https://orcid.org/0000-0002-8299-2677)
- Giovanni Luppino
- Domenico Corica (ORCID: https://orcid.org/0000-0002-3628-1612)
- Giorgia Pepe (ORCID: https://orcid.org/0000-0003-1130-829X)
- Mara Giordano (ORCID: https://orcid.org/0000-0001-6686-4600)
- Debora Porri (ORCID: https://orcid.org/0000-0002-3327-5057)
- Letteria Anna Morabito (ORCID: https://orcid.org/0000-0002-8274-9474)
- Tommaso Aversa (ORCID: https://orcid.org/0000-0002-1754-6822)
Institutions
- University of Messina (IT)
- Università degli Studi del Piemonte Orientale “Amedeo Avogadro” (IT)
- Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico (IT)
- Ospedale Maggiore (IT)
- Azienda Ospedaliera Universitaria Policlinico "G. Martino" (IT)
Publication Details
- Journal
- Genes
- Published
- 2025-05-17
- DOI
- https://doi.org/10.3390/genes16050588
- Citations
- 2
- Primary Topic
- Regulation of Appetite and Obesity
- Type
- article
- Field-Weighted Citation Impact
- 1.83