Homozygosity for two missense mutations in the leptin receptor gene (P316T;W646C) in a Turkmenian girl with severe early-onset obesity

Andiran N., Celik N. , Andiran F.

JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM, cilt.24, ss.1043-1045, 2011 (SCI İndekslerine Giren Dergi) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 24
  • Basım Tarihi: 2011
  • Doi Numarası: 10.1515/jpem.2011.313
  • Sayfa Sayıları: ss.1043-1045


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/m(2) (SDS: +3.6). Results of genetic evaluation revealed the patient to be homo zygous 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.