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Gene Defect Linked to Childhood Obesity

Researchers looked for mutations in the leptin-receptor (LEPR) gene in 300 subjects with hyperphagia and early-onset obesity. The mutation was found in eight people, for a prevalence rate of about 3%. Aside from severe early-onset obesity and hyperphagia, distinguishing characteristics of people with a defective LEPR gene also have "alterations in immune function" and delayed puberty due to hypogonadism. Levels of leptin cannot be used as a marker of LEPR deficiency, as serum leptin levels were within the range predicted by elevated fat mass.

"Congenital leptin-receptor deficiency should be considered in the differential diagnosis of any child with hyperphagia and severe obesity in the absence of developmental delay or dysmorphism," the researchers conclude.

Farooqi IS, Wangensteen T, Collins S, et al.: Clinical and molecular genetic spectrum of congenital deficiency of the leptin receptor. N Engl J Med 356:237–247, 2007[Abstract/Free Full Text] .

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