A novel mutation in the leptin gene (W121X) in an Egyptian family

Inas Mazen; Khalda Amr; Sally Tantawy; I Sadaf Farooqi; Mona El Gammal

doi:10.1016/j.ymgmr.2014.10.002

A novel mutation in the leptin gene (W121X) in an Egyptian family

Mol Genet Metab Rep. 2014 Nov 11:1:474-476. doi: 10.1016/j.ymgmr.2014.10.002. eCollection 2014.

Authors

Inas Mazen¹, Khalda Amr², Sally Tantawy¹, I Sadaf Farooqi³, Mona El Gammal¹

Affiliations

¹ Clinical Genetics Department, National Research Centre, Cairo, Egypt.
² Medical Molecular Genetics Department, National Research Centre, Cairo, Egypt.
³ University of Cambridge Metabolic Research Laboratories and NIHR Cambridge Biomedical Research Centre, Wellcome Trust-MRC Institute of Metabolic Science, Addenbrooke's Hospital, Cambridge, UK.

Abstract

Congenital leptin deficiency is a rare recessively inherited condition due to homozygous mutations in the LEP gene. To date, only nine mutations have been identified in the LEP gene (p.L72S, p.N103K, p.R105W, p.H118L, p.S141C, c.104_106delTCA, c.135del3bp, c.398delG and c.481_482delCT). In this study we present a novel homozygous nonsense mutation (W121X) in LEP in a twelve year old obese male and his severely obese sister. As this disorder is treatable with recombinant leptin, it is intriguing to report a novel homozygous nonsense mutation in LEP in two obese children of consanguineous parents. These patients showed features in accordance with leptin deficiency.

Keywords: Egypt; LEP; Mutation; Novel; Obesity.

Grants and funding

WT_/Wellcome Trust/United Kingdom