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A novel mutation of the leptin gene in an Indian patient
Author(s) -
Thakur S.,
Kumar A.,
Dubey S.,
Saxena R.,
Peters A.N.C.,
Singhal A.
Publication year - 2014
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/cge.12289
Subject(s) - new delhi , medicine , pathology , metropolitan area
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