Six Years of Genetic Diagnosis of Severe Early-Onset Obesity in a French Cohort.

ABSTRACT:

Objective

Obesity is a multifactorial disease with a strong genetic component. It is imperative to enhance the identification of genetic variations in their early and severe manifestations in order to facilitate the development of personalized therapeutic strategies, informed clinical care, and the facilitation of genetic counseling. The objective of the study was to provide a comprehensive description of rare variations identified by next generation sequencing of a panel of genes.

Methods

From 2018 to 2023, a panel of 22 genes was genotyped in 1066 probands (499 children and 567 adults) with severe early-onset obesity.

Results

The genetic study led to a molecular diagnosis in 34 probands (3.2%) and revealed variants of unknown significance (VUS) in 10.3% of cases. In

SUBMITTER: Rama M 

PROVIDER: S-EPMC12619922 | biostudies-literature | 2025 Dec

REPOSITORIES: biostudies-literature