title: A novel mutation in the leptin gene (W121X) in an Egyptian family.
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.
authors.affiliation: Clinical Genetics Department, National Research Centre, Cairo, Egypt.
authors.forename: Inas
authors.initials: I
authors.lastname: Mazen
authors.affiliation: Medical Molecular Genetics Department, National Research Centre, Cairo, Egypt.
authors.forename: Khalda
authors.initials: K
authors.lastname: Amr
authors.affiliation: Clinical Genetics Department, National Research Centre, Cairo, Egypt.
authors.forename: Sally
authors.initials: S
authors.lastname: Tantawy
authors.affiliation: University of Cambridge Metabolic Research Laboratories and NIHR Cambridge Biomedical Research Centre, Wellcome Trust-MRC Institute of Metabolic Science, Addenbrooke's Hospital, Cambridge, UK.
authors.forename: I Sadaf
authors.initials: IS
authors.lastname: Farooqi
authors.affiliation: Clinical Genetics Department, National Research Centre, Cairo, Egypt.
authors.forename: Mona
authors.initials: M
authors.lastname: El Gammal
keywords: Egypt; LEP; Mutation; Novel; Obesity