Congenital leptin receptor deficiency: A novel leptin receptor gene mutation in an Indian family producing severe early-onset monogenic obesity

Abstract

Congenital leptin receptor (LEPR) deficiency is a rare autosomal recessive condition producing early-onset severe monogenic obesity with around 90 cases reported worldwide to date. It is associated with early-onset obesity, hyperphagia, and various hormone deficiencies. We describe siblings born to consanguineous parents with progressive early-onset obesity associated with hyperphagia. Genetic analysis revealed a novel homozygous mutation in LEPR (c.1752G>A) gene on chromosome 1p31. Both parents were heterozygous carriers for the same mutation. This is only the second reported case from India where siblings have been affected with LEPR gene mutation. This will provide further insight into the physiologic role of leptin and its receptor LEPR in monogenic obesity.