High prevalence of leptin and melanocortin-4 receptor gene mutations in children with severe obesity from Pakistani consanguineous families

S Saeed, TA Butt, M Anwer, M Arslan… - Molecular genetics and …, 2012 - Elsevier
Recessive or co-dominant single-gene mutations disrupting leptin melanocortin pathway
cause severe obesity and hyperphagia. Since Pakistan has a very high rate of
consanguinity, therefore, a significantly higher incidence of monogenic obesity is expected
in its population. We have assessed the incidence of LEP and MC4R mutations and
associated hormonal profiles, in a cohort of randomly selected Pakistani children with early
onset of severe obesity. Sixty two unrelated children of consanguineous parents, with a …