A National Multicenter Study of Leptin (LEP) and Leptin Receptor (LEPR) Deficiency and Systematic Review (original) (raw)

The Journal of Clinical Endocrinology & Metabolism

Abstract

Context Homozygous leptin (LEP) and leptin receptor (LEPR) variants lead to childhood-onset obesity. Objective To present new cases with LEP and LEPR deficiency, report the long-term follow-up of previously described patients, and to define, based on all reported cases in literature, genotype-phenotype relationships. Methods Our cohort included 18 patients (LEP = 11, LEPR = 7), eight of whom had been previously reported. A systematic literature review was conducted in July 2022. 42/47 studies on LEP/LEPR were selected. Results Of 10 new cases, two novel pathogenic variants were identified in LEP (c.16delC) and LEPR (c.40+5G>C). Eleven patients with LEP deficiency received metreleptin, four of whom had been treated for over 20 years. One patient developed loss of efficacy associated with neutralizing antibody development. Of 152 patients, including 134 cases from the literature review in addition to our cases, frameshift variants were the most common (48%) in LEP and missense vari...

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