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Leptin (LEP) and leptin receptor (LEPR) play a major role in energy homeostasis, metabolism, and reproductive function. While effects of biallelic likely pathogenic variants ( -/- ) on the phenotype are well characterized, effects of mono-allelic likely pathogenic variants ( wt/- ) in the  LEP  and  LEPR  gene on the phenotype compared to wild-type homozygosity ( wt/wt ) have not been systematically investigated. We identified in our systematic review 44 animal studies (15 on  Lep , 29 on  Lepr ) and 39 studies in humans reporting on 130 mono-allelic likely pathogenic variant carriers with 20 distinct  LEP  variants and 108 heterozygous mono-allelic likely pathogenic variant carriers with 35 distinct  LEPR  variants. We found indications for a higher weight status in carriers of mono-allelic likely pathogenic variant in the leptin and in the leptin receptor gene compared to  wt/wt , in both animal and human studies. In addition, animal studies showed higher body fat percentage in  Lep  and  Lepr wt/-  vs  wt/wt . Animal studies provided indications for lower leptin levels in  Lep wt/-  vs.  wt/wt  and indications for higher leptin levels in  Lepr wt/-  vs  wt/wt . Data on leptin levels in human studies was limited. Evidence for an impaired metabolism in mono-allelic likely pathogenic variants of the leptin and in leptin receptor gene was not conclusive (animal and human studies). Mono-allelic likely pathogenic variants in the leptin and in leptin receptor gene have phenotypic effects disposing to increased body weight and fat accumulation.   Supplementary Information  The online version contains supplementary material available at 10.1186/s40348-021-00119-7.

A fresh look to the phenotype in mono-allelic likely pathogenic variants of the leptin and the leptin receptor gene