A novel mutation of the leptin gene in an Indian patient.

  title={A novel mutation of the leptin gene in an Indian patient.},
  author={Seema Thakur and Anoop Kumar and Sudhisha Dubey and Renu Sharma Raj Kumar Tanuja Srivastava D. C. Saxena and Alexis N Peters and Anu Singhal},
  journal={Clinical genetics},
  volume={86 4},
To the Editor: Congenital human leptin deficiency is a rare genetic syndrome resulting in severe hyperphagia and early onset obesity. It was first reported in 1997 in two cousins from Pakistan (1). Here, we report an 8-year-old morbidly obese Indian girl with severe hyperphagia carrying a novel homozygous mutation in the leptin (LEP ) gene. The proband was born at term to consanguineous parents. Her birth weight (3.5 kg; 50th percentile) was normal. She started gaining weight at around 3 months… CONTINUE READING