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Early-onset severe obesity due to homozygous p.R105W (c313C> T) mutation in leptin gene in Turkish siblings: Two cases reports.

Obesity research & clinical practice - 1 Jan 2000

Fırat Sevde Nur, Onay Hüseyin

Abstract excerpt

Congenital leptin deficiency (CLD) is a rare cause of monogenic form obesity due to homozygous or compound heterozygous mutations in the LEP gene. To date, nine pathogenic mutations have been reported. In this study, we present are; an 18-year-old morbidly obese girl and a 14-year-old obese brother, both with homozygous mutation in the LEP gene [p.R105W (c313C> T)] and their data after three years of recombinant...

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Identifiers

PMID: 34802983
DOI: 10.1016/j.orcp.2021.11.001

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