Genomic deletions on 16p11.2 associated with severe obesity in Brazil.

ABSTRACT:

Introduction

Genetic obesity is considered a rare disease, affecting up to 10% of patients with severe early-onset obesity. Over the past years, significant advances have been made; however, the majority of patients are misdiagnosed with polygenic obesity. Thus, this study aimed to identify deleterious copy number variations (CNVs) linked to obesity and explore the clinical phenotypes.

Method

The sample comprised 195 adults with severe obesity (BMI≥35kg/m²) who developed this phenotype during childhood or adolescence. We investigated the CNV using Multiplex Ligation-dependent Probe Amplification [MLPA] and real-time PCR. Chromosomal microarray analysis was used to assess the extent of genomic alterations.

Results

One patient showed a ~206 kb deletion in the

SUBMITTER: da Silva Assis IS 

PROVIDER: S-EPMC11781945 | biostudies-literature | 2024

REPOSITORIES: biostudies-literature