Identification of novel LEPR mutations in Pakistani families with morbid childhood obesity.

ABSTRACT:

Background

Mutations in the genes encoding leptin (LEP), the leptin receptor (LEPR), and the melanocortin 4 receptor (MC4R) are known to cause severe early-onset childhood obesity. The aim of the current study was to examine the prevalence of damaging LEP, LEPR, and MC4R mutations in Pakistani families having a recessive heritance of early-onset obesity.

Methods

Using targeted resequencing, the presence of rare mutations in LEP, LEPR, and MC4R, was investigated in individuals from 25 families suspected of having autosomal recessive early-onset obesity. Segregation patterns of variants were assessed based on chip-based genotyping.

Results

Homozygous LEPR variants were identified in two probands. One carried a deletion (c.3260AG) resulting in the frameshift mutation p.S

SUBMITTER: Niazi RK 

PROVIDER: S-EPMC6238292 | biostudies-literature | 2018 Nov

REPOSITORIES: biostudies-literature