ArticleThe Journal of clinical endocrinology and metabolism2015
Whole exome sequencing identifies RAI1 mutation in a morbidly obese child diagnosed with ROHHAD syndrome.
Article in The Journal of clinical endocrinology and metabolism, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT02602769 (Whole Transcriptome Profiling and Metabolic Phenotyping in Children With ROHHAD Syndrome), which is not on this map. Cited by 21 papers, 3 of them syntheses that pooled it.
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.
Whole Transcriptome Profiling and Metabolic Phenotyping in Children With ROHHAD Syndrome
Who cites it
21 citing papers in PubMed, 3 syntheses or guidelines pooled it, 38 citations in OpenAlex.
- Retinoic Acid-Induced 1 Gene and Neuropsychiatric Diseases: A Systematic Review.Expert reviews in molecular medicine · 2025Pooled it
- Multiethnic Meta-Analysis Identifies RAI1 as a Possible Obstructive Sleep Apnea-related Quantitative Trait Locus in Men.American journal of respiratory cell and molecular biology · 2018Pooled it
- Rapid-Onset Obesity with Hypoventilation, Hypothalamic, Autonomic Dysregulation, and Neuroendocrine Tumors (ROHHADNET) Syndrome: A Systematic Review.BioMed research international · 2018Pooled it
- ROHHAD NET in Retrospect: Key Lessons Learned from Five Cases.Indian journal of pediatrics · 2025Article
- Genetic evaluation of five patients with ROHHAD-NET using whole genome sequencing and optical genome mapping.Orphanet journal of rare diseases · 2025Article
- ROHHAD-NET Syndrome: A Case Series.Journal of the ASEAN Federation of Endocrine Societies · 2025Article
- Genetic Landscape of Obesity in Children: Research Advances and Prospects.Journal of obesity · 2025Review
- Whole Exome Sequencing of a Multiplex Family of Indian Origin Identifies Variants in theMolecular syndromology · 2024Article
- The Enigma That Is ROHHAD Syndrome: Challenges and Future Strategies.Brain sciences · 2024Review
- Genetics and epigenetics in the obesity phenotyping scenario.Reviews in endocrine & metabolic disorders · 2023Review
- Whole genome sequencing in ROHHAD trios proved inconclusive: what's beyond?Frontiers in genetics · 2023Article
- ZSCAN1 Autoantibodies Are Associated with Pediatric Paraneoplastic ROHHAD.Annals of neurology · 2022Article
- Case Report: Considerations of nocturnal ventilator support in ROHHAD syndrome in chronic care of childhood central hypoventilation with hypothalamus dysfunction.Frontiers in pediatrics · 2022Article
- ROHHAD (Rapid-onset Obesity with Hypoventilation, Hypothalamic Dysfunction, Autonomic Dysregulation) Syndrome-What Every Pediatrician Should Know About the Etiopathogenesis, Diagnosis and Treatment: A Review.International journal of general medicine · 2021Review
- ROHHAD Syndrome, a Rare Cause of Hypothalamic Obesity: Report of Two CasesJournal of clinical research in pediatric endocrinology · 2018Article
- A Rare De NovoBiology · 2018Article
- Homozygous EEF1A2 mutation causes dilated cardiomyopathy, failure to thrive, global developmental delay, epilepsy and early death.Human molecular genetics · 2017Article
- GENETIC AND EPIGENETIC CAUSES OF OBESITY.Adolescent medicine: state of the art reviews · 2017Review
- Review
- Rare Genetic Forms of Obesity: Clinical Approach and Current Treatments in 2016.Obesity facts · 2016Article
Corrections and comments
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Authors and funding
11 authors at 7 institutions in 2 countries.
Funding
Abstract
contextThe current obesity epidemic is attributed to complex interactions between genetic and environmental factors. However, a limited number of cases, especially those with early-onset severe obesity, are linked to single gene defects. Rapid-onset obesity with hypothalamic dysfunction, hypoventilation and autonomic dysregulation (ROHHAD) is one of the syndromes that presents with abrupt-onset extreme weight gain with an unknown genetic basis.
objectiveTo identify the underlying genetic etiology in a child with morbid early-onset obesity, hypoventilation, and autonomic and behavioral disturbances who was clinically diagnosed with ROHHAD syndrome. Design/Setting/Intervention: The index patient was evaluated at an academic medical center. Whole-exome sequencing was performed on the proband and his parents. Genetic variants were validated by Sanger sequencing.
resultsWe identified a novel de novo nonsense mutation, c.3265 C>T (p.R1089X), in the retinoic acid-induced 1 (RAI1) gene in the proband. Mutations in the RAI1 gene are known to cause Smith-Magenis syndrome (SMS). On further evaluation, his clinical features were not typical of either SMS or ROHHAD syndrome.
conclusionsThis study identifies a de novo RAI1 mutation in a child with morbid obesity and a clinical diagnosis of ROHHAD syndrome. Although extreme early-onset obesity, autonomic disturbances, and hypoventilation are present in ROHHAD, several of the clinical findings are consistent with SMS. This case highlights the challenges in the diagnosis of ROHHAD syndrome and its potential overlap with SMS. We also propose RAI1 as a candidate gene for children with morbid 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.