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Articles Published Processes
10/31/2025 3:02:59 PM | Browse: 9 | Download: 54
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Received |
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2025-05-26 13:07 |
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Peer-Review Started |
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2025-05-26 13:07 |
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To Make the First Decision |
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Return for Revision |
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2025-06-23 01:47 |
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Revised |
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2025-07-01 19:02 |
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Second Decision |
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2025-09-10 02:48 |
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Accepted by Journal Editor-in-Chief |
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Accepted by Executive Editor-in-Chief |
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2025-09-10 12:05 |
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Articles in Press |
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2025-09-10 12:05 |
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Publication Fee Transferred |
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Edit the Manuscript by Language Editor |
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Typeset the Manuscript |
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2025-10-22 00:24 |
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Publish the Manuscript Online |
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2025-10-31 15:02 |
| ISSN |
2219-2808 (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: http://creativecommons.org/Licenses/by-nc/4.0/ |
| Copyright |
© The Author(s) 2025. Published by Baishideng Publishing Group Inc. All rights reserved. |
| Article Reprints |
For details, please visit: http://www.wjgnet.com/bpg/gerinfo/247
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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 |
Genetics & Heredity |
| Manuscript Type |
Case Report |
| Article Title |
Atypical case of Rett syndrome with concurrent MECP2 gene mutation and del(15)(q22qter) karyotype: A case report and review of literature
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| Manuscript Source |
Invited Manuscript |
| All Author List |
Imad Fadl-Elmula, Sara Y Abdel-Raheem and Rayan Khalid |
| ORCID |
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| Funding Agency and Grant Number |
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| Corresponding Author |
Imad Fadl-Elmula, Professor, Department of Clinical Genetics, Al Neelain Stem Cell Center, Al Neelain University, 11121 El gamhuriya avenue, Khartoum 11121, Sudan. imad.assafa@gmail.com |
| Key Words |
Rett syndrome; Autism spectrum disorder; Methyl-CpG-binding protein two gene mutation, Chromosome 15 deletion; Atypical presentation; Chromosomal analysis; Case report |
| Core Tip |
This report presents a rare atypical case of Rett syndrome with a novel concomitant of a pathogenic methyl-CpG binding protein 2 p.S134F mutation and 15q22-qter karyotype from Sudan. The patient displayed atypical Rett syndrome phenotype, including significant growth regression and pronounced autistic behaviors, stereotypic hand-flapping and chest-pounding, and absence seizures. The terminal 15q22-qter deletion may disrupt critical neurodevelopmental loci (such as ubiquitin-protein ligase E3A and insulin-like growth factor 1 receptor), which could exacerbate autism and growth failure while potentially reducing susceptibility to seizures. This case expands the phenotypic and genotypic heterogeneity of Rett syndrome, enhances our understanding of how synchronous genomic alterations modulate methyl-CpG binding protein 2-related phenotypes, and underscores the imperative for equitable genetic diagnostics in underrepresented populations. |
| Publish Date |
2025-10-31 15:02 |
| Citation |
<p>Fadl-Elmula I, Abdel-Raheem SY, Khalid R. Atypical case of Rett syndrome with concurrent MECP2 gene mutation and del(15)(q22qter) karyotype: A case report and review of literature. <i>World J Clin Pediatr</i> 2025; 14(4): 109874</p> |
| URL |
https://www.wjgnet.com/2219-2808/full/v14/i4/109874.htm |
| DOI |
https://dx.doi.org/10.5409/wjcp.v14.i4.109874 |
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