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. World J Clin Pediatr 2025; 14(4): 109874 [DOI: 10.5409/wjcp.v14.i4.109874]
Corresponding Author of This Article
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
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Genetics & Heredity
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Case Report
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This article is an open-access article which was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution Non Commercial (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/
Dec 9, 2025 (publication date) through Nov 3, 2025
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World Journal of Clinical Pediatrics
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2219-2808
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Baishideng Publishing Group Inc, 7041 Koll Center Parkway, Suite 160, Pleasanton, CA 94566, USA
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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. World J Clin Pediatr 2025; 14(4): 109874 [DOI: 10.5409/wjcp.v14.i4.109874]
World J Clin Pediatr. Dec 9, 2025; 14(4): 109874 Published online Dec 9, 2025. doi: 10.5409/wjcp.v14.i4.109874
Atypical case of Rett syndrome with concurrent MECP2 gene mutation and del(15)(q22qter) karyotype: A case report and review of literature
Imad Fadl-Elmula, Sara Y Abdel-Raheem, Rayan Khalid
Imad Fadl-Elmula, Department of Clinical Genetics, Al Neelain Stem Cell Center, Al Neelain University, Khartoum 11121, Sudan
Imad Fadl-Elmula, Department of Clinical Genetics, Assafa College, Khartoum 11121, Sudan
Sara Y Abdel-Raheem, Department of Pediatrics, Soba Teaching Hospital, Khartoum 11121, Sudan
Rayan Khalid, Department of Clinical Genetics and Immunology, Assafa College, Khartoum 11121, Sudan
Rayan Khalid, Department of Clinical Genetics and Immunology, Al Neelain Stem Cell Center, Al Neelain University, Khartoum 11121, Sudan
Co-corresponding authors: Imad Fadl-Elmula and Rayan Khalid.
Author contributions: Fadl-Elmula I contributed to intellectual input and revise the manuscript; Fadl-Elmula I and Abdel-Raheem SY contributed to the collection of clinical data and performed clinical examination; Fadl-Elmula I and Khalid R contributed to data interpretation; Abdel-Raheem SY and Khalid R wrote the manuscript; Rayan Khalid contributed to chromosomal analysis. Fadl-Elmula I and Khalid R contributed equally to this manuscript and are co-corresponding authors. All authors approved the final manuscript.
Informed consent statement: Informed written consent was obtained from the patient for publication of this report and any accompanying images.
Conflict-of-interest statement: All the authors report no relevant conflicts of interest for this article.
CARE Checklist (2016) statement: The authors have read the CARE Checklist (2016), and the manuscript was prepared and revised according to the CARE Checklist (2016).
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/
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
Received: May 26, 2025 Revised: July 1, 2025 Accepted: September 10, 2025 Published online: December 9, 2025 Processing time: 160 Days and 22.4 Hours
Core Tip
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.
