Monogenic forms of childhood obesity due to mutations in the leptin gene

Jan-Bernd Funcke; Julia von Schnurbein; Belinda Lennerz; Georgia Lahr; Klaus-Michael Debatin; Pamela Fischer-Posovszky; Martin Wabitsch

doi:10.1186/s40348-014-0003-1

Monogenic forms of childhood obesity due to mutations in the leptin gene

Mol Cell Pediatr. 2014 Dec;1(1):3. doi: 10.1186/s40348-014-0003-1. Epub 2014 Sep 4.

Authors

Jan-Bernd Funcke¹, Julia von Schnurbein², Belinda Lennerz³, Georgia Lahr⁴, Klaus-Michael Debatin⁵, Pamela Fischer-Posovszky⁶, Martin Wabitsch⁷

Affiliations

¹ Division of Pediatric Endocrinology and Diabetes, Department of Pediatrics and Adolescent Medicine, Ulm University Medical Center, Ulm, 89075, Germany. [email protected].
² Division of Pediatric Endocrinology and Diabetes, Department of Pediatrics and Adolescent Medicine, Ulm University Medical Center, Ulm, 89075, Germany. [email protected].
³ Division of Pediatric Endocrinology and Diabetes, Department of Pediatrics and Adolescent Medicine, Ulm University Medical Center, Ulm, 89075, Germany. [email protected].
⁴ Department of Pediatrics and Adolescent Medicine, Ulm University Medical Center, Ulm, 89075, Germany. [email protected].
⁵ Department of Pediatrics and Adolescent Medicine, Ulm University Medical Center, Ulm, 89075, Germany. [email protected].
⁶ Division of Pediatric Endocrinology and Diabetes, Department of Pediatrics and Adolescent Medicine, Ulm University Medical Center, Ulm, 89075, Germany. [email protected].
⁷ Division of Pediatric Endocrinology and Diabetes, Department of Pediatrics and Adolescent Medicine, Ulm University Medical Center, Ulm, 89075, Germany. [email protected].

Abstract

Congenital leptin deficiency is a rare autosomal recessive monogenic obesity syndrome caused by mutations in the leptin gene. This review describes the molecular and cellular characteristics of the eight distinct mutations found so far in humans.

Keywords: Bioinactive hormone; Leptin deficiency; Leptin mutation; Leptin secretion; Obesity.