Targeted Exome Sequencing of Genes Involved in Rare CNVs in Early-Onset Severe Obesity.

ABSTRACT: Context: Rare copy number variants (CNVs) have been associated with the development of severe obesity. However, the potential disease-causing contribution of individual genes within the region of CNVs is often not known. Objective: Screening of rare variants in genes involved in CNVs in Finnish patients with severe early-onset obesity to find candidate genes linked to severe obesity. Methods: Custom-made targeted exome sequencing panel to search for rare (minor allele frequency <0.1%) variants in genes affected by previously identified CNVs in 92 subjects (median age 14 years) with early-onset severe obesity (median body mass index (BMI) Z-score + 4.0). Results: We identified thirteen rare heterozygous variants of unknown significance in eleven subjects in twelv

SUBMITTER: Loid P 

PROVIDER: S-EPMC8940233 | biostudies-literature | 2022

REPOSITORIES: biostudies-literature