ArticleObesity (Silver Spring, Md.)2014
Whole-exome sequencing identifies novel LEPR mutations in individuals with severe early onset obesity.
Article in Obesity (Silver Spring, Md.), 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 23 papers.
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Who cites it
23 citing papers in PubMed, 54 citations in OpenAlex.
- Leptin Receptor Gene Variant rs11804091 Is Associated with BMI and Insulin Resistance in Spanish Female Obese Children: A Case-Control Study.International journal of molecular sciences · 2017Trial
- NGS Approaches in Clinical Diagnostics: From Workflow to Disease-Specific Applications.International journal of molecular sciences · 2025Review
- A Leptin Receptor Mutation Which Impairs Fertility in Ewes Causes Delayed Puberty in Male and Female Mice.Endocrinology · 2025Article
- The expanding landscape of genetic causes of obesity.Pediatric research · 2025Review
- Rare predicted loss of function alleles in Bassoon (BSN) are associated with obesity.NPJ genomic medicine · 2023Article
- High morbidity and mortality in children with untreated congenital deficiency of leptin or its receptor.Cell reports. Medicine · 2023Article
- Congenital leptin and leptin receptor deficiencies in nine new families: identification of six novel variants and review of literature.Molecular genetics and genomics : MGG · 2023Review
- Gene expression atlas of energy balance brain regions.JCI insight · 2021Article
- Article
- Obesity Genomics and Metabolomics: a Nexus of Cardiometabolic Risk.Current cardiology reports · 2020Review
- Novel Mutations in Obesity-related Genes in Turkish Children with Non-syndromic Early Onset Severe Obesity: A Multicentre StudyJournal of clinical research in pediatric endocrinology · 2019Article
- Whole exome sequencing reveals novel LEPR frameshift mutation in severely obese children from Western India.Molecular genetics & genomic medicine · 2019Article
- Functional and Phenotypic Characteristics of Human Leptin Receptor Mutations.Journal of the Endocrine Society · 2019Review
- Identification of novel LEPR mutations in Pakistani families with morbid childhood obesity.BMC medical genetics · 2018Article
- GENETIC AND EPIGENETIC CAUSES OF OBESITY.Adolescent medicine: state of the art reviews · 2017Review
- Transcriptomic analysis of aggressive meningiomas identifies PTTG1 and LEPR as prognostic biomarkers independent of WHO grade.Oncotarget · 2016Article
- Leptin applications in 2015: what have we learned about leptin and obesity?Current opinion in endocrinology, diabetes, and obesity · 2015Review
- Exome sequencing followed by genotyping suggests SYPL2 as a susceptibility gene for morbid obesity.European journal of human genetics : EJHG · 2015Article
- Differentiation of hypothalamic-like neurons from human pluripotent stem cells.The Journal of clinical investigation · 2015Article
- Review
Corrections and comments
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Authors and funding
12 authors at 8 institutions in 1 country.
Funding
Abstract
objectiveObesity is a major public health problem that increases the risk for a broad spectrum of co-morbid conditions. Despite evidence for a strong genetic contribution to susceptibility to obesity, previous efforts to discover the relevant genes using positional cloning have failed to account for most of the apparent genetic risk variance. DESIGN AND
methodsDeploying a strategy combining analysis of exome sequencing data in extremely obese members of four consanguineous families with segregation analysis, we screened for causal genetic variants. Filter-based analysis and homozygosity mapping were used to identify and prioritize putative functional variants.
resultsTwo novel frameshift mutations in the leptin receptor in two of the families were identified.
conclusionsThese results provide proof-of-principle that whole-exome sequencing of families segregating for extreme obesity can identify causal pathogenic mutations. The methods described here can be extended to additional families segregating for extreme obesity and should enable the identification of mutations in novel genes that predispose to obesity.
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Registered trials
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.