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Identification of hereditary forms of morbid obesity in children
https://doi.org/10.25557/2073-7998.2025.08.106-109
Abstract
Given the important role of obesity in the development of metabolic disorders, identifying pathogenic gene variants in children with severe obesity is a key task of endocrinology. Whole exome sequencing (WES) was performed in 59 children with morbid obesity and 30 variants were found in 16 genes that were clinically significant in 23 children, which amounted to 38.9% of the total sample, more than half of them were identified for the first time. The results of the study expand the understanding of the genetic structure of obesity in the Russian population.
Supporting agencies: The study was not supported by sponsorship
About the Authors
R. R. Salakhov
I.I. Dedov National Medical Research Center of Endocrinology of the Ministry of Health of the Russian Federation
Russian Federation
Russian Federation
117292; 11, Dm.Ulyanova st.; Moscow
D. A. Kopytina
I.I. Dedov National Medical Research Center of Endocrinology of the Ministry of Health of the Russian Federation
Russian Federation
Russian Federation
117292; 11, Dm.Ulyanova st.; Moscow
R. I. Khusainova
I.I. Dedov National Medical Research Center of Endocrinology of the Ministry of Health of the Russian Federation
Russian Federation
Russian Federation
117292; 11, Dm.Ulyanova st.; Moscow
O. V. Vasyukova
I.I. Dedov National Medical Research Center of Endocrinology of the Ministry of Health of the Russian Federation
Russian Federation
Russian Federation
117292; 11, Dm.Ulyanova st.; Moscow
R. M. Guseynova
I.I. Dedov National Medical Research Center of Endocrinology of the Ministry of Health of the Russian Federation
Russian Federation
Russian Federation
117292; 11, Dm.Ulyanova st.; Moscow
V. A. Peterkova
I.I. Dedov National Medical Research Center of Endocrinology of the Ministry of Health of the Russian Federation
Russian Federation
Russian Federation
117292; 11, Dm.Ulyanova st.; Moscow
I. R. Minniakhmetov
I.I. Dedov National Medical Research Center of Endocrinology of the Ministry of Health of the Russian Federation
Russian Federation
Russian Federation
117292; 11, Dm.Ulyanova st.; Moscow
N. G. Mokrysheva
I.I. Dedov National Medical Research Center of Endocrinology of the Ministry of Health of the Russian Federation
Russian Federation
Russian Federation
117292; 11, Dm.Ulyanova st.; Moscow
References
1. Saeed S., Arslan M., Froguel P. Genetics of Obesity in Consanguineous Populations: Toward Precision Medicine and the Discovery of Novel Obesity Genes. Obesity (Silver Spring). 2018; 26(3):474-484.
2. Kühnen P., Clément K., Wiegand S., et al. Proopiomelanocortin Deficiency Treated with a Melanocortin-4 Receptor Agonist. N Engl J Med. 2016;375(3):240-246.
3. Kopytina D.A., Vasyukova O.V., Salakhov R.R., et al. Identifikatsiya novykh patogennykh variantov v gene GNAS u detey s morbidnym ozhireniyem i psevdogipoparatireozom. [Identification of novel pathogenic variants in the GNAS gene in children with morbid obesity and pseudohypoparathyroidism]. Ozhireniye i metabolism [Obesity and metabolism]. 2024;21(4):412-424. (In Russ.)
4. Nordang G.B.N., Busk Ø.L., Tveten K., et al. Next-Generation Sequencing of the Monogenic Obesity Genes LEP, LEPR, MC4R, PCSK1 and POMC in a Norwegian Cohort of Patients with Morbid Obesity and Normal Weight Controls. Mol. Genet. Metab. 2017;121:51–56.
5. Akıncı A., Turkkahraman D., Tekedereli I. et al. Novel Mutations in Obesity-Related Genes in Turkish Children with Non-Syndromic Early Onset Severe Obesity: A Multicentre Study. JCRPE J. Clin. Res. Pediatr. Endocrinol. 2019;11:341–349..
6. Foucan L., Larifla L., Durand E. et al. High Prevalence of Rare Monogenic Forms of Obesity in Obese Guadeloupean Afro-Caribbean Children. J. Clin. Endocrinol. Metab. 2018;103:539–545.
7. Trevellin E., Granzotto M., Host C. et al. A Novel Loss of Function Melanocortin-4-Receptor Mutation (MC4R-F313Sfs˃29) in Morbid Obesity. J. Clin. Endocrinol. Metab. 2021;106:736–749.
8. Saeed S., Bonnefond A., Manzoor J. et al. Genetic Variants in LEP, LEPR, and MC4R Explain 30 % of Severe Obesity in Children from a Consanguineous Population. Obesity 2015;23:1687–1695.
Review
For citations:
Salakhov R.R., Kopytina D.A., Khusainova R.I., Vasyukova O.V., Guseynova R.M., Peterkova V.A., Minniakhmetov I.R., Mokrysheva N.G. Identification of hereditary forms of morbid obesity in children. Medical Genetics. 2025;24(8):106-109. (In Russ.) https://doi.org/10.25557/2073-7998.2025.08.106-109
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