Congenital Leptin Deficiency and Leptin Gene Missense Mutation Found in Two Colombian Sisters with Severe Obesity.
Hernan Yupanqui-LoznoRaul A BastarracheaMaria E Yupanqui-VelazcoMonica Alvarez-JaramilloEsteban Medina-MéndezAida P Giraldo-PeñaAlexandra Arias-SerranoCarolina Torres-ForeroAngelica M Garcia-OrdoñezClaudio A MastronardiCarlos M RestrepoErnesto Rodriguez-AyalaEdna J Nava-GonzalezMauricio Arcos-BurgosJack W KentShelley A ColeJulio LicinioLuis Gustavo CelisPublished in: Genes (2019)
The mutation of LEP, absence of detectable leptin, and the severe obesity found in these sisters provide the first evidence of monogenic leptin deficiency reported in the continents of North and South America.