ArticleInternational journal of obesity (2005)2017
Prevalence and phenotypic characterization of MC4R variants in a large pediatric cohort.
Article in International journal of obesity (2005), 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers.
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Who cites it
20 citing papers in PubMed, 60 citations in OpenAlex.
- Genetic determinants of obesity: mechanisms, clinical implications, and targeted therapies.Endocrine · 2026Review
- Neural Melanocortin Receptors in Fish: Insights into Growth Regulation and Aquaculture Advancement.Biomolecules · 2026Review
- Exploring Autosomal Dominant Non-Syndromic Monogenic Obesity: From Genes to Therapy.Current issues in molecular biology · 2026Review
- Monogenic obesity due to MC4R deficiency: lessons from a multigenerational case.Molecular and cellular pediatrics · 2026Article
- Unraveling the relationship between head circumference and MC4R deficiency from infancy to adulthood: a case-control study.Obesity (Silver Spring, Md.) · 2025Article
- Syndromic and Monogenic Obesity: New Opportunities Due to Genetic-Based Pharmacological Treatment.Children (Basel, Switzerland) · 2024Review
- Beyond the Metabolic Syndrome: Non-Obvious Complications of Obesity in Children.Children (Basel, Switzerland) · 2023Review
- Evaluation of Pharmacological Rescue of Melanocortin-4 Receptor Nonsense Mutations by Aminoglycoside.Life (Basel, Switzerland) · 2022Article
- Evaluation and Management of Early Onset Genetic Obesity in Childhood.Journal of pediatric genetics · 2021Review
- Clinical Assessment and Treatment of Early-Onset Severe Obesity.Current obesity reports · 2021Review
- Hypothalamic GPCR Signaling Pathways in Cardiometabolic Control.Frontiers in physiology · 2021Review
- Mouse models for V103I and I251L gain of function variants of the human MC4R display decreased adiposity but are not protected against a hypercaloric diet.Molecular metabolism · 2020Article
- Identifying underlying medical causes of pediatric obesity: Results of a systematic diagnostic approach in a pediatric obesity center.PloS one · 2020Observational
- Environment and Gene Association With Obesity and Their Impact on Neurodegenerative and Neurodevelopmental Diseases.Frontiers in neuroscience · 2020Review
- Characterization of Rare Variants in MC4R in African American and Latino Children With Severe Early-Onset Obesity.The Journal of clinical endocrinology and metabolism · 2019Article
- A comprehensive diagnostic approach to detect underlying causes of obesity in adults.Obesity reviews : an official journal of the International Association for the Study of Obesity · 2019Review
- Early childhood BMI trajectories in monogenic obesity due to leptin, leptin receptor, and melanocortin 4 receptor deficiency.International journal of obesity (2005) · 2018Article
- Review
- Genetic and Syndromic Causes of Obesity and its Management.Indian journal of pediatrics · 2018Review
- Estimated prevalence of potentially damaging variants in the leptin gene.Molecular and cellular pediatrics · 2017Article
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Authors and funding
7 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
objectiveWe aimed to determine the prevalence of melanocortin-4 receptor (MC4R) variants in a large German cohort of children with obesity in a pediatric outpatient clinic and to ascertain whether there is a specific phenotype associated with loss-of-function variants as previously reported. STUDY
designEight hundred and ninety-nine patients from our pediatric obesity clinic were screened for MC4R variants by DNA sequencing after PCR amplification. Retrospective statistical analysis of anthropometric and metabolic characteristics was performed, comparing patients with and without MC4R variants across the entire cohort (n=586) as well as in case-control analysis using patients with common sequence MC4R individually matched for age, sex and body mass index standard deviation score (SDS) (n=11 case-control pairs).
resultsWe identified heterozygous variants within the coding region of the MC4R gene in n=22 (2.45%) patients. Fourteen (1.56%) had a variant that impaired receptor function. One new frameshift (p.F152Sfs), an yet unpublished nonsense mutation (p.Q156X) and one nonsynonymous variation (p.V65E) described in the Mouse Genome Database were detected. Across the whole cohort, at all ages, mean height SDS in subjects with impaired receptor function was higher than in patients with common sequence MC4R. In matched individuals, this trend persisted (8 of the 11 pairs) within the case-control setting. No differences were found regarding metabolic characteristics.
conclusionsThe observed prevalence of mutations causing impaired receptor function in this large cohort is comparable to other pediatric cohorts. MC4R deficiency tends to lead to a taller stature, confirming previous clinical reports. The association of MC4R mutations with a distinct phenotype concerning metabolic characteristics remains questionable.
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