ArticleMolecular cytogenetics2018
Chromosomal microarray analysis in the genetic evaluation of 279 patients with syndromic obesity.
Article in Molecular cytogenetics, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 26 papers, 1 of them a synthesis that pooled it.
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26 citing papers in PubMed, 1 synthesis or guideline pooled it, 49 citations in OpenAlex.
- MYT1L: A systematic review of genetic variation encompassing schizophrenia and autism.American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics · 2020Pooled it
- Genetic architecture of obesity and advances in precision pharmacotherapy: a comprehensive review.Acta biochimica Polonica · 2026Review
- Towards Precision Medicine in Obesity: Genetic Copy Number Variations Profiling Linked to Specific Metabolic Dysregulation Patterns.International journal of molecular sciences · 2025Article
- Integrating Genetic Insights, Technological Advancements, Screening, and Personalized Pharmacological Interventions in Childhood Obesity.Advances in therapy · 2025Review
- Genetic variation in NOTCH1 is associated with overweight and obesity in Brazilian elderly.Scientific reports · 2024Article
- Genomic deletions on 16p11.2 associated with severe obesity in Brazil.Frontiers in endocrinology · 2024Article
- A Case Report on 13q12.3 Microdeletion Syndrome Caused byCase reports in genetics · 2024Article
- A novel case of 16q22.3 duplication syndrome in a child with overgrowth: case report and literature review.BMC medical genomics · 2023Review
- Review
- Monoallelic intragenic POU3F2 variants lead to neurodevelopmental delay and hyperphagic obesity, confirming the gene's candidacy in 6q16.1 deletions.American journal of human genetics · 2023Article
- Genome-wide screening for genetic variants in polyadenylation signal (PAS) sites in mouse selection lines for fatness and leanness.Mammalian genome : official journal of the International Mammalian Genome Society · 2023Article
- Review
- Co-occurring pathogenic variants in 6q27 associated with dementia spectrum disorders in a Peruvian family.Frontiers in molecular neuroscience · 2023Article
- High-resolution genomic profiling and locus-specific FISH in subcutaneous and visceral adipose tissue of obese patients.Frontiers in genetics · 2023Article
- Reviewed and updated Algorithm for Genetic Characterization of Syndromic Obesity Phenotypes.Current genomics · 2022Review
- Gestational Perfluoroalkyl Substance Exposure and DNA Methylation at Birth and 12 Years of Age: A Longitudinal Epigenome-Wide Association Study.Environmental health perspectives · 2022Article
- Article
- MYT1L-associated neurodevelopmental disorder: description of 40 new cases and literature review of clinical and molecular aspects.Human genetics · 2022Article
- Identification of MEDAG and SERPINE1 Related to Hypoxia in Abdominal Aortic Aneurysm Based on Weighted Gene Coexpression Network Analysis.Frontiers in physiology · 2022Article
- Targeted Exome Sequencing of Genes Involved in Rare CNVs in Early-Onset Severe Obesity.Frontiers in genetics · 2022Article
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Authors and funding
11 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundSyndromic obesity is an umbrella term used to describe cases where obesity occurs with additional phenotypes. It often arises as part of a distinct genetic syndrome with Prader-Willi syndrome being a classical example. These rare forms of obesity provide a unique source for identifying obesity-related genetic changes. Chromosomal microarray analysis (CMA) has allowed the characterization of new genetic forms of syndromic obesity, which are due to copy number variants (CNVs); however, CMA in large cohorts requires more study. The aim of this study was to characterize the CNVs detected by CMA in 279 patients with a syndromic obesity phenotype.
resultsPathogenic CNVs were detected in 61 patients (22%) and, among them, 35 had overlapping/recurrent CNVs. Genomic imbalance disorders known to cause syndromic obesity were found in 8.2% of cases, most commonly deletions of 1p36, 2q37 and 17p11.2 (5.4%), and we also detected deletions at 1p21.3, 2p25.3, 6q16, 9q34, 16p11.2 distal and proximal, as well as an unbalanced translocation resulting in duplication of the
conclusionUnderstanding the genetics of obesity has proven difficult, and considerable insight has been obtained from the study of genomic disorders with obesity associated as part of the phenotype. In our study, CNVs known to be causal for syndromic obesity were detected in 8.2% of patients, but we provide evidence for a genetic basis of obesity in as many as 14% of cases. Overall, our results underscore the genetic heterogeneity in syndromic forms of obesity, which imposes a substantial challenge for diagnosis.
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