| ISSN |
2307-8960 (online) |
| Open Access |
This article is an open-access article that was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution NonCommercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See: https://creativecommons.org/Licenses/by-nc/4.0/ |
| Copyright |
© The Author(s) 2024. Published by Baishideng Publishing Group Inc. All rights reserved. |
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| Permissions |
For details, please visit: http://www.wjgnet.com/bpg/gerinfo/207
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| Publisher |
Baishideng Publishing Group Inc, 7041 Koll Center Parkway, Suite 160, Pleasanton, CA 94566, USA |
| Website |
http://www.wjgnet.com |
| Category |
Clinical Neurology |
| Manuscript Type |
Observational Study |
| Article Title |
Genetic investigation of the ubiquitin-protein ligase E3A gene as putative target in Angelman syndrome
|
| Manuscript Source |
Unsolicited Manuscript |
| All Author List |
Wiem Manoubi, Marwa Mahdouani, Dorra Hmida, Ameni Kdissa, Aida Rouissi, Ilhem Turki, Neji Gueddiche, Najla Soyah, Ali Saad, Christian Bouwkamp, Ype Elgersma, Soumaya Mougou-Zerelli and Moez Gribaa |
| ORCID |
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| Funding Agency and Grant Number |
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| Corresponding Author |
Wiem Manoubi, BSc, Research Scientist, Researcher, Laboratory of Human Cytogenetics, Molecular Genetics and Reproductive Biology, Farhat Hached University Hospital, Street Ibn El Jazzar, Sousse 4000, Tunisia. wiem.manoubi@yahoo.fr |
| Key Words |
Angelman syndrome; Ubiquitin-Protein ligase E3A; Exome; Consanguinity; Polymorphism |
| Core Tip |
Angelman syndrome (AS) is caused by maternal chromosome 15q11q13 deletions, imprinting defects, paternal uniparental disomy 15, and ubiquitin-protein ligase E3A (UBE3A) gene mutations. UBE3A is a brain-specific imprinting gene that encodes a ubiquitin-protein ligase. Here, we describe the variants in the UBE3A coding region detected by sequencing analysis in 50 AS Tunisian individuals with a normal bi-parental inheritance and methylation pattern of 15q11q13. Seven polymorphisms were found in our patients, including three novel variants. To identify bi-allelic recessive mutations that give rise to AS-like phenotypes, we considered consanguineous families, as they are more likely to develop such a recessive disease. |
| Publish Date |
2024-01-18 09:11 |
| Citation |
Manoubi W, Mahdouani M, Hmida D, Kdissa A, Rouissi A, Turki I, Gueddiche N, Soyah N, Saad A, Bouwkamp C, Elgersma Y, Mougou-Zerelli S, Gribaa M. Genetic investigation of the ubiquitin-protein ligase E3A gene as putative target in Angelman syndrome. World J Clin Cases 2024; 12(3): 503-516 |
| URL |
https://www.wjgnet.com/2307-8960/full/v12/i3/503.htm |
| DOI |
https://dx.doi.org/10.12998/wjcc.v12.i3.503 |
