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ABSTRACT: Background/objective
The 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.Methods
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. We also undertook re-analysis of WES data from 91 unrelated adults with severe obesity (86% white European ancestry) from the Personalised Medicine for Morbid Obesity (PMMO) cohort, recruited from the UK National Health Service.Results
We identified an oligogenic mode of inheritance of obesity in the proband's family-th
SUBMITTER: Almansoori S
PROVIDER: S-EPMC11129943 | biostudies-literature | 2024 Jun
REPOSITORIES: biostudies-literature