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Case Report Open Access

Missense mutation (Ser654Leu) in the ITGA8 gene associated with renal hypodysplasia: A case report

  • Authors:
    • Kumar Gautam Singh
    • Anbalagan Moorthy
  • View Affiliations / Copyright

    Affiliations: Vellore Institute of Technology, Vellore Campus, Vellore, Tamil Nadu 632014, India
    Copyright: © Singh et al. This is an open access article distributed under the terms of Creative Commons Attribution License.
  • Article Number: 68
    |
    Published online on: February 17, 2025
       https://doi.org/10.3892/br.2025.1946
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Abstract

Renal hypodysplasia is a congenital kidney anomaly that occurs when part of the kidney does not fully develop in the womb. Numerous genes have been identified that when mutated, result in renal dysplasia. This has encouraged the authors to search for additional genes and variants potentially linked to renal anomalies. Using next‑generation sequencing combined with Sanger sequencing, a missense variant in the ITGA8 gene (NM_003638.2:c.1961C>T; p.Ser654Leu) associated with renal hypodysplasia was identified. Detailed studies on this variant revealed that Ser654 is conserved across species, and the mutation is located in the extracellular domain of the protein, which plays an essential role in ligand binding and protein‑protein interactions. This is the first study presenting the clinical correlation of the ITGA8 variant (Ser654Leu) with renal hypodysplasia.
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Copy and paste a formatted citation
Spandidos Publications style
Singh KG and Moorthy A: Missense mutation (Ser654Leu) in the <em>ITGA8</em> gene associated with renal hypodysplasia: A case report. Biomed Rep 22: 68, 2025.
APA
Singh, K.G., & Moorthy, A. (2025). Missense mutation (Ser654Leu) in the <em>ITGA8</em> gene associated with renal hypodysplasia: A case report. Biomedical Reports, 22, 68. https://doi.org/10.3892/br.2025.1946
MLA
Singh, K. G., Moorthy, A."Missense mutation (Ser654Leu) in the <em>ITGA8</em> gene associated with renal hypodysplasia: A case report". Biomedical Reports 22.4 (2025): 68.
Chicago
Singh, K. G., Moorthy, A."Missense mutation (Ser654Leu) in the <em>ITGA8</em> gene associated with renal hypodysplasia: A case report". Biomedical Reports 22, no. 4 (2025): 68. https://doi.org/10.3892/br.2025.1946
Copy and paste a formatted citation
x
Spandidos Publications style
Singh KG and Moorthy A: Missense mutation (Ser654Leu) in the <em>ITGA8</em> gene associated with renal hypodysplasia: A case report. Biomed Rep 22: 68, 2025.
APA
Singh, K.G., & Moorthy, A. (2025). Missense mutation (Ser654Leu) in the <em>ITGA8</em> gene associated with renal hypodysplasia: A case report. Biomedical Reports, 22, 68. https://doi.org/10.3892/br.2025.1946
MLA
Singh, K. G., Moorthy, A."Missense mutation (Ser654Leu) in the <em>ITGA8</em> gene associated with renal hypodysplasia: A case report". Biomedical Reports 22.4 (2025): 68.
Chicago
Singh, K. G., Moorthy, A."Missense mutation (Ser654Leu) in the <em>ITGA8</em> gene associated with renal hypodysplasia: A case report". Biomedical Reports 22, no. 4 (2025): 68. https://doi.org/10.3892/br.2025.1946
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