Evidence map›Paper›PMID 41029821›Full record

ArticleHuman genomics2025

Significance of GNAS mutations for morbid obesity in children.

Ramil R Salakhov, Rita I Khusainova, Olga V Vasyukova, Daria A Kopytina, Bulat I Yalaev, Yulia S Karpova, Pavel L Okorokov, Valentina A Peterkova, Ildar R Minniakhmetov, Natalia G Mokrysheva

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Article in Human genomics, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

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1citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

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3 · Its place in the literature

Who cites it

1 citing paper in PubMed.

  1. Review
4 · The record

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5 · Who and what money

Authors and funding

10 authors.

Ramil R SalakhovEndocrinology Research Centre, Dmitry Ulyanov Street 11, Moscow, 117292, Russia. salakhov.ramil@endocrincentr.ru.
Rita I KhusainovaEndocrinology Research Centre, Dmitry Ulyanov Street 11, Moscow, 117292, Russia. khusainova.rita@endocrincentr.ru.
Olga V VasyukovaEndocrinology Research Centre, Dmitry Ulyanov Street 11, Moscow, 117292, Russia.
Daria A KopytinaEndocrinology Research Centre, Dmitry Ulyanov Street 11, Moscow, 117292, Russia.
Bulat I YalaevEndocrinology Research Centre, Dmitry Ulyanov Street 11, Moscow, 117292, Russia.
Yulia S KarpovaEndocrinology Research Centre, Dmitry Ulyanov Street 11, Moscow, 117292, Russia.
Pavel L OkorokovEndocrinology Research Centre, Dmitry Ulyanov Street 11, Moscow, 117292, Russia.
Valentina A PeterkovaEndocrinology Research Centre, Dmitry Ulyanov Street 11, Moscow, 117292, Russia.
Ildar R MinniakhmetovEndocrinology Research Centre, Dmitry Ulyanov Street 11, Moscow, 117292, Russia.
Natalia G MokryshevaEndocrinology Research Centre, Dmitry Ulyanov Street 11, Moscow, 117292, Russia.

Funding

Ministry of Science and Higher Education of the Russian Federation No. 075-15-2022-310 from 20 April 2022
6 · The paper itself

Abstract

backgroundHereditary forms of obesity are characterized by early severe heterogeneous manifestations of the phenotype along with a rapid progression to morbid obesity, primary due to pathogenic variants of certain genes. Most forms are characterized by moderate to severe neuropsychic developmental delays, dysmorphic features and organ-specific developmental anomalies.

resultWe searched for hereditary causes of morbid obesity in children by exome sequencing. As a result, we have identified 5 variants in the GNAS locus, two of which were identified for the first time: NM_000516.7(GNAS):c.201del, (p.Phe68Leufs*32) and NM_000516.7(GNAS):c.586 - 18_591del. Children showed tolerance to parathyroid hormone and thyroid-stimulating hormone. It has been observed that almost all the children with frameshift variants or nonsense mutations presented with subcutaneous ossifications.

conclusionsThe search for variants in a group of patients with morbid obesity, as conducted in our research, reaffirms the need for use molecular genetic testing to determine the main diagnosis and facilitate early detection of the disease. This is particularly relevant given the wide clinical variability of monogenic forms of obesity.

Indexed as

ChromograninsGenetic Predisposition to DiseaseGTP-Binding Protein alpha Subunits, GsMutationObesity, MorbidAdolescentChildChild, PreschoolExome SequencingFemaleHumansMalePhenotypeChromograninsGNAS protein, humanGTP-Binding Protein alpha Subunits, GsAlbright's hereditary osteodystrophyGNASMorbid obesityPseudohypoparathyroidism (PHP)

Identifiers

PMID41029821
PMCPMC12487621

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