Whole exome sequencing identifies RAI1 mutation in a morbidly obese child diagnosed with ROHHAD syndrome

The Journal of Clinical Endocrinology and Metabolism
Vidhu V ThakerPankaj B Agrawal

Abstract

The 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. To 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. We 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. This study identifies a de novo RAI1 mutation in a child with morbid obesity and a clinic...Continue Reading

Citations

Nov 12, 2015·Respiratory Physiology & Neurobiology·Sarah F BarclayDebra E Weese-Mayer
Sep 26, 2016·Obesity Research & Clinical Practice·Aneek Das BhowmikMadhulika Kabra
Oct 26, 2018·Obesity Reviews : an Official Journal of the International Association for the Study of Obesity·V TamD Meyre
May 15, 2020·The Journal of Clinical Endocrinology and Metabolism·Julie HarvengtVincent Bours

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