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

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 of age and had voracious appetite. Her weight gain continued. At 8 years, her weight was 95 kg (>97th centile) and height was 134 cm (50–75th centile; BMI 52.9). There was no dysmorphism to suggest syndromic obesity. Complete blood count, blood sugar, renal and liver function tests, lipid profile, serum electrolytes, thyroid