A novel PEX1 mutation in a Moroccan family with Zellweger spectrum disorders
| العنوان: | A novel PEX1 mutation in a Moroccan family with Zellweger spectrum disorders |
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| المؤلفون: | Zied Riahi, Crystel Bonnet, Christine Petit, Abdelhamid Barakat, Amale Bousfiha, Khalid Snoussi, Amina Bakhchane, Hicham Charoute, Hassan Rouba |
| المساهمون: | Institut Pasteur du Maroc, Réseau International des Instituts Pasteur (RIIP), Institut de la Vision, Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Génétique et Physiologie de l'Audition, Institut Pasteur [Paris]-Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU), Chaire Génétique et physiologie cellulaire, Collège de France (CdF (institution)), We thank all the patients and their families for their collaboration. This study was approved by the Ethics Committee of the Morocco Pasteur Institute, Institut Pasteur [Paris] (IP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU), Collège de France - Chaire Génétique et physiologie cellulaire, Bonnet, Crystel |
| المصدر: | Human Genome Variation Human Genome Variation, Nature Publishing Group, 2017, 4 (1), pp.17009. ⟨10.1038/hgv.2017.9⟩ Human Genome Variation, 2017, 4 (1), pp.17009. ⟨10.1038/hgv.2017.9⟩ |
| بيانات النشر: | HAL CCSD, 2017. |
| سنة النشر: | 2017 |
| مصطلحات موضوعية: | 0301 basic medicine, Genetics, Mutation, [SDV]Life Sciences [q-bio], Protein domain, 030105 genetics & heredity, Biology, medicine.disease_cause, Biochemistry, [SDV] Life Sciences [q-bio], 03 medical and health sciences, chemistry.chemical_compound, 030104 developmental biology, chemistry, ATP hydrolysis, Hydrolase, otorhinolaryngologic diseases, Nucleoside triphosphate, medicine, Missense mutation, PEX1, Molecular Biology, Gene |
| الوصف: | International audience; 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. |
| وصف الملف: | application/pdf |
| اللغة: | English |
| تدمد: | 2054-345X |
| DOI: | 10.1038/hgv.2017.9⟩ |
| URL الوصول: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9bcae21bbb3e0c3a043ea3004eb39418 https://hal-pasteur.archives-ouvertes.fr/pasteur-03219646 |
| Rights: | OPEN |
| رقم الانضمام: | edsair.doi.dedup.....9bcae21bbb3e0c3a043ea3004eb39418 |
| قاعدة البيانات: | OpenAIRE |
| تدمد: | 2054345X |
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| DOI: | 10.1038/hgv.2017.9⟩ |