Whole-exome sequencing identifies novel LEPR mutations in individuals with severe early onset obesity.

ABSTRACT:

Objective

Obesity is a major public health problem that increases the risk for a broad spectrum of co-morbid conditions. Despite evidence for a strong genetic contribution to susceptibility to obesity, previous efforts to discover the relevant genes using positional cloning have failed to account for most of the apparent genetic risk variance.

Design and methods

Deploying a strategy combining analysis of exome sequencing data in extremely obese members of four consanguineous families with segregation analysis, we screened for causal genetic variants. Filter-based analysis and homozygosity mapping were used to identify and prioritize putative functional variants.

Results

Two novel frameshift mutations in the leptin receptor in two of the families were identified.

Co

SUBMITTER: Gill R 

PROVIDER: S-EPMC3791145 | biostudies-literature | 2014 Feb

REPOSITORIES: biostudies-literature