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

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.