Evidence map›Paper›PMID 40428410›Full record

ArticleGenes2025

Cumulative Effects of Genetic Variants Detected in a Child with Early-Onset Non-Syndromic Obesity Due to SIM-1 Gene Mutation.

Giovanni Luppino, Malgorzata Wasniewska, Mara Giordano, Giorgia Pepe, Letteria Anna Morabito, Debora Porri, Tommaso Aversa, Domenico Corica

Abstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in Genes, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.

0numbers the graph read from it
0cells of the map it votes in
3citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

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

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

3 citing papers in PubMed.

  1. Review
  2. Review
  3. Review
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

8 authors.

Giovanni LuppinoDepartment of Human Pathology of Adulthood and Childhood, University of Messina, Via Consolare Valeria 1, 98125 Messina, Italy.ORCID 0009-0008-7697-2347
Malgorzata WasniewskaDepartment of Human Pathology of Adulthood and Childhood, University of Messina, Via Consolare Valeria 1, 98125 Messina, Italy.ORCID 0000-0002-8299-2677
Mara GiordanoLaboratory of Genetics, Struttura Complessa a Direzione Universitaria (SCDU) Biochimica Clinica, Ospedale Maggiore della Carità, 28100 Novara, Italy.ORCID 0000-0001-6686-4600
Giorgia PepeDepartment of Human Pathology of Adulthood and Childhood, University of Messina, Via Consolare Valeria 1, 98125 Messina, Italy.
Letteria Anna MorabitoPediatric Unit, AOU Policlinico G. Martino, Via Consolare Valeria 1, 98125 Messina, Italy.ORCID 0000-0002-8274-9474
Debora PorriDepartment of Human Pathology of Adulthood and Childhood, University of Messina, Via Consolare Valeria 1, 98125 Messina, Italy.
Tommaso AversaDepartment of Human Pathology of Adulthood and Childhood, University of Messina, Via Consolare Valeria 1, 98125 Messina, Italy.ORCID 0000-0002-1754-6822
Domenico CoricaDepartment of Human Pathology of Adulthood and Childhood, University of Messina, Via Consolare Valeria 1, 98125 Messina, Italy.ORCID 0000-0002-3628-1612

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundSingle-minded homolog 1 ( CASE DESCRIPTION: A 3-year-old male was referred for the first time to Outpatient pediatric endocrinology due to early-onset and progressive severe obesity and hyperphagia. He presented neurobehavior disorders and partial diabetes insipidus. At age 6, the child was diagnosed with obesity-related complications, including hyperinsulinemia, impaired glucose tolerance, hypercholesterolemia, hepatic steatosis, and hypovitaminosis. The NGS analysis revealed four variants related to obesity:

conclusionsThe 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

Indexed as

Basic Helix-Loop-Helix ProteinsMutationObesityPediatric ObesityRepressor ProteinsChildChild, PreschoolHumansMaleBasic Helix-Loop-Helix ProteinsRepressor ProteinsSIM1 protein, humanCREBBP geneearly onset obesityhyperphagianeurobehavior disordersPLXNA geneSEMA3 geneSIM1 gene

Identifiers

PMID40428410
PMCPMC12110950

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.