ArticleThe Journal of clinical endocrinology and metabolism2019
Characterization of Rare Variants in MC4R in African American and Latino Children With Severe Early-Onset Obesity.
Article in The Journal of clinical endocrinology and metabolism, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT01998750 (Study to Identify Rare Genetic Variants Causing Severe Early Childhood Obesity), which is not on this map. Cited by 17 papers.
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.
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.
Study to Identify Rare Genetic Variants Causing Severe Early Childhood Obesity
Who cites it
17 citing papers in PubMed, 26 citations in OpenAlex.
- Variants in the leptin-MC4R pathway and ciliopathy-related genes in youths with obesity beyond hyperphagia and early onset.Journal of endocrinological investigation · 2026Article
- The Clinical Phenotype and Genetic Analysis of Monogenic Non Syndromic Obesity Caused by MC4R Gene Variation.Molecular genetics & genomic medicine · 2026Article
- Impact of abdominal obesity indices on all-cause and cardiovascular mortality in individuals with pre-diabetes and diabetes: insights from a prospective cohort study.BMC public health · 2025Article
- Rare genetic forms of obesity in childhood and adolescence, a comprehensive review of their molecular mechanisms and diagnostic approach.European journal of pediatrics · 2023Review
- Article
- Testing for rare genetic causes of obesity: findings and experiences from a pediatric weight management program.International journal of obesity (2005) · 2022Article
- Clinical, genetic, and epidemiological survey of Polish children and adolescents with severe obesity: A study protocol of the Polish-German study project on severe early-onset obesity.Frontiers in endocrinology · 2022Article
- Identification of p.Met215Ile mutation of theClinical case reports · 2021Article
- Evaluation and Management of Early Onset Genetic Obesity in Childhood.Journal of pediatric genetics · 2021Review
- Racial Disparities in Obesity Treatment Among Children and Adolescents.Current obesity reports · 2021Review
- The Families Improving Health Together (FIT) Program: Initial evaluation of retention and research in a multispecialty clinic for children with obesity.Obesity science & practice · 2021Article
- Human MC4R variants affect endocytosis, trafficking and dimerization revealing multiple cellular mechanisms involved in weight regulation.Cell reports · 2021Article
- Clinical Assessment and Treatment of Early-Onset Severe Obesity.Current obesity reports · 2021Review
- Evaluation of the MC4R gene across eMERGE network identifies many unreported obesity-associated variants.International journal of obesity (2005) · 2021Article
- Melanocortin 4 receptor (MC4R) gene variants in children and adolescents having familial early-onset obesity: genetic and clinical characteristics.European journal of pediatrics · 2020Article
- Identifying underlying medical causes of pediatric obesity: Results of a systematic diagnostic approach in a pediatric obesity center.PloS one · 2020Observational
- Rare Variants in Genes Linked to Appetite Control and Hypothalamic Development in Early-Onset Severe Obesity.Frontiers in endocrinology · 2020Article
Corrections and comments
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Authors and funding
14 authors at 5 institutions in 1 country.
Funding
Abstract
contextMutations in melanocortin receptor (MC4R) are the most common cause of monogenic obesity in children of European ancestry, but little is known about their prevalence in children from the minority populations in the United States.
objectiveThis study aims to identify the prevalence of MC4R mutations in children with severe early-onset obesity of African American or Latino ancestry. DESIGN AND
settingParticipants were recruited from the weight management clinics at two hospitals and from the institutional biobank at a third hospital. Sequencing of the MC4R gene was performed by whole exome or Sanger sequencing. Functional testing was performed to establish the surface expression of the receptor and cAMP response to its cognate ligand α-melanocyte-stimulating hormone.
participantsThree hundred twelve children (1 to 18 years old, 50% girls) with body mass index (BMI) >120% of 95th percentile of Centers for Disease Control and Prevention 2000 growth charts at an age <6 years, with no known pathological cause of obesity, were enrolled.
resultsEight rare MC4R mutations (2.6%) were identified in this study [R7S, F202L (n = 2), M215I, G252D, V253I, I269N, and F284I], three of which were not previously reported (G252D, F284I, and R7S). The pathogenicity of selected variants was confirmed by prior literature reports or functional testing. There was no significant difference in the BMI or height trajectories of children with or without MC4R mutations in this cohort.
conclusionsAlthough the prevalence of MC4R mutations in this cohort was similar to that reported for obese children of European ancestry, some of the variants were novel.
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Registered trials
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