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

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 stud...

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Detalles Bibliográficos
Autores principales: Mazen, Inas, Amr, Khalda, Tantawy, Sally, Farooqi, I. Sadaf, El Gammal, Mona
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2014
Materias:
Short Communication
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5121350/
https://www.ncbi.nlm.nih.gov/pubmed/27896126
http://dx.doi.org/10.1016/j.ymgmr.2014.10.002
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author Mazen, Inas
Amr, Khalda
Tantawy, Sally
Farooqi, I. Sadaf
El Gammal, Mona
author_facet Mazen, Inas
Amr, Khalda
Tantawy, Sally
Farooqi, I. Sadaf
El Gammal, Mona
author_sort Mazen, Inas
collection PubMed
description 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.
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spelling pubmed-51213502016-11-28 A novel mutation in the leptin gene (W121X) in an Egyptian family Mazen, Inas Amr, Khalda Tantawy, Sally Farooqi, I. Sadaf El Gammal, Mona Mol Genet Metab Rep Short Communication 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. Elsevier 2014-11-11 /pmc/articles/PMC5121350/ /pubmed/27896126 http://dx.doi.org/10.1016/j.ymgmr.2014.10.002 Text en © 2014 The Authors http://creativecommons.org/licenses/by-nc-nd/3.0/ This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/licenses/by-nc-nd/3.0/).
spellingShingle Short Communication
Mazen, Inas
Amr, Khalda
Tantawy, Sally
Farooqi, I. Sadaf
El Gammal, Mona
A novel mutation in the leptin gene (W121X) in an Egyptian family
title A novel mutation in the leptin gene (W121X) in an Egyptian family
title_full A novel mutation in the leptin gene (W121X) in an Egyptian family
title_fullStr A novel mutation in the leptin gene (W121X) in an Egyptian family
title_full_unstemmed A novel mutation in the leptin gene (W121X) in an Egyptian family
title_short A novel mutation in the leptin gene (W121X) in an Egyptian family
title_sort novel mutation in the leptin gene (w121x) in an egyptian family
topic Short Communication
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5121350/
https://www.ncbi.nlm.nih.gov/pubmed/27896126
http://dx.doi.org/10.1016/j.ymgmr.2014.10.002
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