Beckwith–Wiedemann syndrome: Clinical, histopathological and molecular study of two Tunisian patients and review of literature

Sahli, H.; Elaribi, Yasmina; Jilani, Houweyda; Rejeb, Imen; Hizem, Syrine; Sebai, Molka; Kasdallah, Nadia; Bouthour, H.; Hannachi, Samia; Beygo, Jasmin; Saâd, Ali; Buiting, Karin; Ben-Brahim, Dorra H'mida; BenJemaa, Lamia

doi:10.1002/mgg3.1796

Cited by 3 publications

(1 citation statement)

References 47 publications

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“…Beckwith-Wiedemann Syndrome (BWS), on the other hand, is characterized by ST segment elevation and T-wave inversion in V1 and V2 leads on electrocardiograms. This condition may disrupt the electrical activity of the ventricular muscles [ 19 , 20 ]. Patients with BWS may experience arrhythmias during nighttime rest or upon waking up in the morning, leading to serious consequences like syncope and sudden death [ 21 ].…”

Section: Discussionmentioning

confidence: 99%

Joint effects of CD8A and ICOS in Long QT Syndrome (LQTS) and Beckwith-Wiedemann Syndrome (BWS)

Meng,

Li,

et al. 2024

J Cardiothorac Surg

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Background Long QT Syndrome (LQTS) and Beckwith-Wiedemann Syndrome (BWS) are complex disorders with unclear origins, underscoring the need for in-depth molecular investigations into their mechanisms. The main aim of this study is to identify the shared key genes between LQTS and BWS, shedding light on potential common molecular pathways underlying these syndromes. Methods The LQTS and BWS datasets are available for download from the GEO database. Differential expression genes (DEGs) were identified. Weighted gene co-expression network analysis (WGCNA) was used to detect significant modules and central genes. Gene enrichment analysis was performed. CIBERSORT was used for immune cell infiltration analysis. The predictive protein interaction (PPI) network of core genes was constructed using STRING, and miRNAs regulating central genes were screened using TargetScan. Results Five hundred DEGs associated with Long QT Syndrome and Beckwith-Wiedemann Syndrome were identified. GSEA analysis revealed enrichment in pathways such as T cell receptor signaling, MAPK signaling, and adrenergic signaling in cardiac myocytes. Immune cell infiltration indicated higher levels of memory B cells and naive CD4 T cells. Four core genes (CD8A, ICOS, CTLA4, LCK) were identified, with CD8A and ICOS showing low expression in the syndromes and high expression in normal samples, suggesting potential inverse regulatory roles. Conclusion The expression of CD8A and ICOS is low in long QT syndrome and Beckwith-Wiedemann syndrome, indicating their potential as key genes in the pathogenesis of these syndromes. The identification of shared key genes between LQTS and BWS provides insights into common molecular mechanisms underlying these disorders, potentially facilitating the development of targeted therapeutic strategies.

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Section: Discussionmentioning

confidence: 99%