ArticleThe Journal of clinical endocrinology and metabolism2017
Early-Onset Obesity: Unrecognized First Evidence for GNAS Mutations and Methylation Changes.
Article in The Journal of clinical endocrinology and metabolism, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 papers.
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Who cites it
22 citing papers in PubMed, 31 citations in OpenAlex.
- Differential methylation at novel putative imprinting control regions on chromosome 20 associated with childhood obesity.Epigenetics · 2026Article
- Management of Childhood Obesity.International journal of molecular sciences · 2026Review
- Exploring Autosomal Dominant Non-Syndromic Monogenic Obesity: From Genes to Therapy.Current issues in molecular biology · 2026Review
- Improving the diagnosis of hyperphagia in melanocortin-4 receptor pathway diseases.Obesity (Silver Spring, Md.) · 2025Review
- Multi-locus methylation analyses reveal GNAS methylation defects in three patients with the Beckwith-Wiedemann syndrome phenotype and no molecular defects in the 11p15.5 imprinted region.Clinical epigenetics · 2025Article
- Article
- GNAS AS2 methylation status enables mechanism-based categorization of pseudohypoparathyroidism type 1B.JCI insight · 2024Article
- A novelClinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology · 2024Article
- Pseudohypoparathyroidism: complex disease variants with unfortunate names.Journal of molecular endocrinology · 2024Review
- Testing for rare genetic causes of obesity: findings and experiences from a pediatric weight management program.International journal of obesity (2005) · 2022Article
- High-throughput Molecular Analysis of Pseudohypoparathyroidism 1b Patients Reveals Novel Genetic and Epigenetic Defects.The Journal of clinical endocrinology and metabolism · 2021Article
- Obesity and GαThe New England journal of medicine · 2021Article
- Molecular Definition of Pseudohypoparathyroidism Variants.The Journal of clinical endocrinology and metabolism · 2021Review
- Preferential Maternal Transmission of STX16-GNAS Mutations Responsible for Autosomal Dominant Pseudohypoparathyroidism Type Ib (PHP1B): Another Example of Transmission Ratio Distortion.Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research · 2021Article
- Article
- Recommendations for Diagnosis and Treatment of Pseudohypoparathyroidism and Related Disorders: An Updated Practical Tool for Physicians and Patients.Hormone research in paediatrics · 2020Review
- Hyperinsulinemia: An Early Indicator of Metabolic Dysfunction.Journal of the Endocrine Society · 2019Review
- Management of pseudohypoparathyroidism.Current opinion in pediatrics · 2019Review
- Article
- Epigenetic and Transcriptomic Characterization of Pure Adipocyte Fractions From Obese Pigs Identifies Candidate Pathways Controlling Metabolism.Frontiers in genetics · 2019Article
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Authors and funding
9 authors at 6 institutions in 3 countries.
Funding
Abstract
Context: Early-onset obesity, characteristic for disorders affecting the leptin-melanocortin pathway, is also observed in pseudohypoparathyroidism type 1A (PHP1A), a disorder caused by maternal GNAS mutations that disrupt expression or function of the stimulatory G protein α-subunit (Gsα). Mutations and/or epigenetic abnormalities at the same genetic locus are also the cause of pseudohypoparathyroidism type 1B (PHP1B). However, although equivalent biochemical and radiographic findings can be encountered in these related disorders caused by GNAS abnormalities, they are considered distinct clinical entities. Objectives: To further emphasize the overlapping features between both disorders, we report the cases of several children, initially brought to medical attention because of unexplained early-onset obesity, in whom PHP1B or PHP1A was eventually diagnosed. Patients and Methods: Search for GNAS methylation changes or mutations in cohorts of patients with early-onset obesity. Results: Severe obesity had been noted in five infants, with a later diagnosis of PHP1B due to STX16 deletions and/or abnormal GNAS methylation. These findings prompted analysis of 24 unselected obese patients, leading to the discovery of inherited STX16 deletions in 2 individuals. Similarly, impressive early weight gains were noted in five patients, who initially lacked additional Albright hereditary osteodystrophy features but in whom PHP1A due to GNAS mutations involving exons encoding Gsα was diagnosed. Conclusions: Obesity during the first year of life can be the first clinical evidence for PHP1B, expanding the spectrum of phenotypic overlap between PHP1A and PHP1B. Importantly, GNAS methylation abnormalities escape detection by targeted or genome-wide sequencing strategies, raising the question of whether epigenetic GNAS analyses should be considered for unexplained obesity.
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