Clinical Exome Sequencing Identifies a Novel Mutation of the GREB1L Gene in a Chinese Family with Renal Agenesis

Background:Renal agenesis (RA) is one of the most severe congenital anomalies of the kidney and urinary tract; it is known to be highly genetically heterogeneous. The purpose of this study was to explore the clinical significance of genetic diagnostics in a Chinese RA family. Methods:Five members of an RA family and 100 healthy people were recruited. Clinical exome sequencing was conducted to explore the underlying genetic cause in the affected family. Results:Exome sequencing identified a novel missense mutation (c.2333T>A,p.Val778Asp) in theGREB1Lgene. ThisGREB1Lvariant was not detected in controls and was predicted to be highly damaging to the physiological function of the GREB1L protein. Conclusion:We identified a novel c.2333T>A variant in theGREB1Lgene that extends the mutational spectrum associated with renal agenesis.