Understanding the genetics of early onset obesity in a cohort of children from Qatar.
Idris MohammedBasma HarisTara Al-BarazenjiDhanya VasudevaSara TomeiIman Al AzwaniHajar DaulehSaira ShehzadShiga ChirayathGhassan MohamadsalihGoran PetrovskiAmel KhalifaDonald R LoveMashael Al-ShafaiKhalid HussainPublished in: The Journal of clinical endocrinology and metabolism (2023)
We identified likely pathogenic/pathogenic variants that seem to explain the phenotype of around 14.8% of our cases. Variants in the MC4R gene are the commonest cause of early onset obesity in our population. Our study represents the largest monogenic obesity cohort in the Middle East which revealed novel obesity variants in this understudied population. Functional studies will be required to elucidate the molecular mechanism of their pathogenicity.