Homozygosity for two missense mutations in the leptin receptor gene (P316:W646C) in a Turkmenian girl with severe early-onset obesity.
Leptin receptor gene mutations are a very rare cause of severe early-onset obesity. They are also associated with lack of pubertal development and intense hyperphagia. Presented here is a case of a 6-year-old Turkmenian girl with monogenic obesity due to a congenital deficiency of the leptin receptor. She was born from a consanguineous marriage of second cousins after 40 gestational weeks following an uncomplicated pregnancy. Her birth weight was 3500 g. However, rapid weight gain was observed after 6 months. On presentation she was 130 cm tall [> 97th percentile; standard deviation score (SDS): +2], with a weight of 90 kg (> 97th percentile; SDS: +5.3) and a body mass index (BMI) of 53.2 kg/m2 (SDS: +3.6). Results of genetic evaluation revealed the patient to be homozygous for two missense mutations in the leptin receptor gene (P316T;W646C) resulting in complete loss of leptin receptor function. Both parents were heterozygous for the same pair of missence mutations.
Department of Pediatrics, Division of Endocrinology, Faculty of Medicine, Fatih University, Ankara, Turkey.
Nesibe
N
Andiran
Nurullah
N
Celik
Fatih
F
Andiran
D000052:Acanthosis Nigricans / Q000235:genetics*; D017668:Age of Onset; D002648:Child; D003241:Consanguinity; D005260:Female; D006720:Homozygote; D006801:Humans; D020125:Mutation, Missense / Q000235:genetics*; D009765:Obesity / Q000235:genetics*; D054411:Receptors, Leptin / Q000235:genetics*; D012720:Severity of Illness Index; D014421:Turkey
C515448:LEPR protein, human; D054411:Receptors, Leptin