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Article

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

Molecular genetics and metabolism - 1 May 2012

Saeed Sadia, Butt Taeed A, Anwer Mehwish, Arslan Muhammad, Froguel Philippe

Abstract excerpt

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...

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Identifiers

PMID: 22463805
DOI: 10.1016/j.ymgme.2012.03.001

Genes

LEP

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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