title: Monogenic forms of childhood obesity due to mutations in the leptin gene.
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.
authors.affiliation: Division of Pediatric Endocrinology and Diabetes, Department of Pediatrics and Adolescent Medicine, Ulm University Medical Center, Ulm, 89075, Germany. jan-bernd.funcke@uni-ulm.de.
authors.forename: Jan-Bernd
authors.initials: JB
authors.lastname: Funcke
authors.affiliation: Division of Pediatric Endocrinology and Diabetes, Department of Pediatrics and Adolescent Medicine, Ulm University Medical Center, Ulm, 89075, Germany. julia.schnurbein@uniklinik-ulm.de.
authors.forename: Julia
authors.initials: J
authors.lastname: von Schnurbein
authors.affiliation: Division of Pediatric Endocrinology and Diabetes, Department of Pediatrics and Adolescent Medicine, Ulm University Medical Center, Ulm, 89075, Germany. belinda.lennerz@uniklinik-ulm.de.
authors.forename: Belinda
authors.initials: B
authors.lastname: Lennerz
authors.affiliation: Department of Pediatrics and Adolescent Medicine, Ulm University Medical Center, Ulm, 89075, Germany. georgia.lahr@uniklinik-ulm.de.
authors.forename: Georgia
authors.initials: G
authors.lastname: Lahr
authors.affiliation: Department of Pediatrics and Adolescent Medicine, Ulm University Medical Center, Ulm, 89075, Germany. klaus-michael.debatin@uniklinik-ulm.de.
authors.forename: Klaus-Michael
authors.initials: KM
authors.lastname: Debatin
authors.affiliation: Division of Pediatric Endocrinology and Diabetes, Department of Pediatrics and Adolescent Medicine, Ulm University Medical Center, Ulm, 89075, Germany. pamela.fischer@uniklinik-ulm.de.
authors.forename: Pamela
authors.initials: P
authors.lastname: Fischer-Posovszky
authors.affiliation: Division of Pediatric Endocrinology and Diabetes, Department of Pediatrics and Adolescent Medicine, Ulm University Medical Center, Ulm, 89075, Germany. martin.wabitsch@uniklinik-ulm.de.
authors.forename: Martin
authors.initials: M
authors.lastname: Wabitsch
keywords: Bioinactive hormone; Leptin deficiency; Leptin mutation; Leptin secretion; Obesity