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

被引：58
作者：
Jan-Bernd Funcke
Julia von Schnurbein
Belinda Lennerz
Georgia Lahr
Klaus-Michael Debatin
Pamela Fischer-Posovszky
Martin Wabitsch
机构：
[1] Ulm University Medical Center,Division of Pediatric Endocrinology and Diabetes, Department of Pediatrics and Adolescent Medicine
[2] Ulm University Medical Center,Department of Pediatrics and Adolescent Medicine
来源：
Molecular and Cellular Pediatrics | / 1卷 / 1期
关键词：
Leptin deficiency; Leptin mutation; Leptin secretion; Obesity; Bioinactive hormone;
D O I：
10.1186/s40348-014-0003-1
中图分类号：
学科分类号：
摘要：
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.
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