Obesity is a highly heritable trait, with estimated heritability of about 40-70%. Genetic variations including single nucleotide polymorphisms (SNPs) and copy number variations (CNVs) have been associated with obesity. A large deletion (~600 kb) on chr16p11.2 has been found to cause a highly penetrant from of obesity often associated with hyperphagia and intellectual disabilities, in European populations. Here, we investigated the role of CNVs in obesity among eight Qatari families, using HumanOmni2.5 genotyping arrays and whole genome sequencing. We identified a patient with a heterozygous 16p deletion that is ~618 kb in size and occurred de novo. The patient had extreme obesity (BMI 52.8), speech delay and learning disabilities. This finding highlights the importance of the 16p deletions in ethnic groups other than the Europeans. In addition, this is the first family-based study conducted on the genetics of obesity on the Qatari population that we are aware off. Such a targeted approach provides an answer, for the first time, to a Qatari citizen regarding the genetic cause of his/her obesity.


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