A novel PEX1 mutation in a Moroccan family with Zellweger spectrum disorders

Mutations in the PEX1 gene are usually associated with recessive inherited diseases including Zellweger spectrum disorders. In this work, we identified a new pathogenic missense homozygous PEX1 mutation (p.Leu1026Pro, c.3077T>C) in two Moroccan syndromic deaf siblings from consanguineous parents....

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Autores principales: Bousfiha, Amale, Bakhchane, Amina, Charoute, Hicham, Riahi, Zied, Snoussi, Khalid, Rouba, Hassan, Bonnet, Crystel, Petit, Christine, Barakat, Abdelhamid
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group 2017
Materias:
Data Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5390255/
https://www.ncbi.nlm.nih.gov/pubmed/28446956
http://dx.doi.org/10.1038/hgv.2017.9
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author Bousfiha, Amale
Bakhchane, Amina
Charoute, Hicham
Riahi, Zied
Snoussi, Khalid
Rouba, Hassan
Bonnet, Crystel
Petit, Christine
Barakat, Abdelhamid
author_facet Bousfiha, Amale
Bakhchane, Amina
Charoute, Hicham
Riahi, Zied
Snoussi, Khalid
Rouba, Hassan
Bonnet, Crystel
Petit, Christine
Barakat, Abdelhamid
author_sort Bousfiha, Amale
collection PubMed
description Mutations in the PEX1 gene are usually associated with recessive inherited diseases including Zellweger spectrum disorders. In this work, we identified a new pathogenic missense homozygous PEX1 mutation (p.Leu1026Pro, c.3077T>C) in two Moroccan syndromic deaf siblings from consanguineous parents. This variation is located in the P-loop containing nucleoside triphosphate hydrolase of protein domain and probably causes an alteration in the hydrolysis of ATP.
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spelling pubmed-53902552017-04-26 A novel PEX1 mutation in a Moroccan family with Zellweger spectrum disorders Bousfiha, Amale Bakhchane, Amina Charoute, Hicham Riahi, Zied Snoussi, Khalid Rouba, Hassan Bonnet, Crystel Petit, Christine Barakat, Abdelhamid Hum Genome Var Data Report Mutations in the PEX1 gene are usually associated with recessive inherited diseases including Zellweger spectrum disorders. In this work, we identified a new pathogenic missense homozygous PEX1 mutation (p.Leu1026Pro, c.3077T>C) in two Moroccan syndromic deaf siblings from consanguineous parents. This variation is located in the P-loop containing nucleoside triphosphate hydrolase of protein domain and probably causes an alteration in the hydrolysis of ATP. Nature Publishing Group 2017-04-13 /pmc/articles/PMC5390255/ /pubmed/28446956 http://dx.doi.org/10.1038/hgv.2017.9 Text en Copyright © 2017 The Author(s) http://creativecommons.org/licenses/by-nc-nd/4.0/ This work is licensed under a Creative Commons Attribution-NonCommercial-NoDerivs 4.0 International License. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in the credit line; if the material is not included under the Creative Commons license, users will need to obtain permission from the license holder to reproduce the material. To view a copy of this license, visit http://creativecommons.org/licenses/by-nc-nd/4.0/
spellingShingle Data Report
Bousfiha, Amale
Bakhchane, Amina
Charoute, Hicham
Riahi, Zied
Snoussi, Khalid
Rouba, Hassan
Bonnet, Crystel
Petit, Christine
Barakat, Abdelhamid
A novel PEX1 mutation in a Moroccan family with Zellweger spectrum disorders
title A novel PEX1 mutation in a Moroccan family with Zellweger spectrum disorders
title_full A novel PEX1 mutation in a Moroccan family with Zellweger spectrum disorders
title_fullStr A novel PEX1 mutation in a Moroccan family with Zellweger spectrum disorders
title_full_unstemmed A novel PEX1 mutation in a Moroccan family with Zellweger spectrum disorders
title_short A novel PEX1 mutation in a Moroccan family with Zellweger spectrum disorders
title_sort novel pex1 mutation in a moroccan family with zellweger spectrum disorders
topic Data Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5390255/
https://www.ncbi.nlm.nih.gov/pubmed/28446956
http://dx.doi.org/10.1038/hgv.2017.9
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