Sumaya Almansoori

Jan 30, 2024 | nature.com | Robin G Walters |Nader Lessan |Sumaya Almansoori

AbstractThe genetic architecture of extreme non-syndromic obesity in adults remains to be elucidated. A range of genes are known to cause monogenic obesity, but even when pathogenic mutations are present, there may be variable penetrance. Whole-exome sequencing (WES) was carried out on a 15-year-old male proband of Pakistani ancestry who had severe obesity. This was followed by family segregation analysis, using Sanger sequencing.