Clinical and molecular genetic spectrum of congenital deficiency of the leptin receptor.

doi:10.1056/NEJMoa063988

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Article

Clinical and molecular genetic spectrum of congenital deficiency of the leptin receptor.

The New England journal of medicine - 18 Jan 2007

Farooqi I Sadaf, Wangensteen Teresia, Collins Stephan, Kimber Wendy, Matarese Giuseppe, Keogh Julia M, Lank Emma, Bottomley Bill, Lopez-Fernandez Judith, Ferraz-Amaro Ivan, Dattani Mehul T, Ercan Oya, Myhre Anne Grethe, Retterstol Lars, Stanhope Richard, Edge Julie A, McKenzie Sheila, Lessan Nader, Ghodsi Maryam, De Rosa Veronica, Perna Francesco, Fontana Silvia, Barroso Inês, Undlien Dag E, O'Rahilly Stephen

Abstract excerpt

BACKGROUND: A single family has been described in which obesity results from a mutation in the leptin-receptor gene (LEPR), but the prevalence of such mutations in severe, early-onset obesity has not been systematically examined. METHODS: We sequenced LEPR in 300 subjects with hyperphagia and severe early-onset obesity, including 90 probands from consanguineous families, and investigated the extent to which...

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Identifiers

PMID: 17229951
DOI: 10.1056/NEJMoa063988
PMCID: PMC2670197

Genes

LEPR

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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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