AI Article Synopsis
- - Veno-occlusive disease with immunodeficiency (VODI) syndrome is a rare genetic disorder with immune system issues and high mortality, linked to mutations on chromosome 2q37.1, particularly concerning tuberculosis.
- - A case study of a three-year-old girl with suspected immunodeficiency utilized whole-exome sequencing (WES) to find and confirm pathogenic mutations, revealing a novel deletion-insertion mutation affecting the SP110 protein.
- - This research aims to improve the diagnosis of VODI syndrome by identifying various mutations in the SP110 gene, which could lead to targeted therapies and better treatment options.
Article Abstract
Veno-occlusive disease with immunodeficiency (VODI) syndrome is a rare genetic disorder characterized by immune system irregularities and a significant mortality rate, despite its infrequency. , situated on chromosome 2q37.1, plays a pivotal role in VODI syndrome, and its association with tuberculosis has been extensively studied. The identification of mutations holds promise for accelerating the diagnosis and treatment of VODI syndrome, by providing a comprehensive panel for diagnosis and potentially leading to targeted therapies. In this case study, we examined a three-year-old girl born to a consanguineous union who was suspected of having an immunodeficiency disorder. Whole-exome sequencing (WES) and clinical assessments were conducted to screen for and confirm potentially pathogenic mutations. The detected mutation was further analyzed using bioinformatics tools to forecast its impact on protein structure. WES analysis revealed a novel deletion-insertion mutation, , within . Protein analysis indicated substantial structural modifications in the SP110 protein. This study identified a novel deletion-insertion mutation as a potential contributor to VODI syndrome by affecting the functionality of the SP110 protein. By including various mutations associated with the gene, this study aimed to expedite diagnosis by creating a comprehensive panel for VODI syndrome.
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| http://dx.doi.org/10.22074/cellj.2024.2023359.1514 | DOI Listing |
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