Missense mutation (Ser 654 Leu) in ITGA8 gene leads to renal hypodysplasia: A Case Report

Abstract

Abstract Renal hypodysplasia is a congenital anomaly of the kidney that occurs when part of a kidney does not fully develop in the womb. A lot of genes have been when mutated, results in renal dysplasia. This has encouraged us to search for additional genes and gene variants that may be linked to renal anomalies. Using next-generation sequencing combined with Sanger sequencing, we correlated a variant of the ITGA8 gene (NM_003638.2:c.1961C > T; p.Ser654Leu) to renal hypodysplasia. Detailed studies on this variant revealed that Ser 654 is conserved across different species and the mutation is present in the extracellular domain of the proteins, which has an important role in ligand binding and other protein-protein interactions. For the first time, we present the clinical correlation of ITGA8 gene variant (Ser654Leu) to renal dysplasia.