Congenital Leptin Deficiency and Leptin Gene Missense Mutation Found in Two Colombian Sisters with Severe Obesity

Congenital Leptin Deficiency and Leptin Gene Missense Mutation Found in Two Colombian Sisters with Severe Obesity

Background: Congenital leptin deficiency is a recessive genetic disorder associated with severe early-onset obesity. It is caused by mutations in the leptin (<i>LEP</i>) gene, which encodes the protein product leptin. These mutations may cause nonsense-mediated mRNA decay, defective secr...

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Bibliographic Details
Main Authors: Hernan Yupanqui-Lozno, Raul A. Bastarrachea, Maria E. Yupanqui-Velazco, Monica Alvarez-Jaramillo, Esteban Medina-Méndez, Aida P. Giraldo-Peña, Alexandra Arias-Serrano, Carolina Torres-Forero, Angelica M. Garcia-Ordoñez, Claudio A. Mastronardi, Carlos M. Restrepo, Ernesto Rodriguez-Ayala, Edna J. Nava-Gonzalez, Mauricio Arcos-Burgos, Jack W. Kent, Shelley A. Cole, Julio Licinio, Luis G. Celis-Regalado
Format: Article
Language:English
Published: MDPI AG 2019-05-01
Series:Genes
Subjects:
congenital leptin deficiency
novel mutation
extreme obesity
Colombian sisters
<i>LEP</i> gene
consanguinity
Online Access:https://www.mdpi.com/2073-4425/10/5/342

Internet

https://www.mdpi.com/2073-4425/10/5/342

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