Novel evidence of CNV deletion in KCTD13 related to the severity of isolated hypospadias in Chinese population. Novel evidence of CNV deletion in KCTD13 related to the severity of isolated hypospadias in Chinese population

Background: CNV in KCTD13 has been identified to influence androgen receptor function via its changes in gene dosage, which might contribute to hypospadias. However, there is lack of population-level evidence to assess the contribution of KCTD13 CNV to hypospadias.Methods: 349 isolated hypospadias patients were recruited and their genotyping was performed using real-time qPCR. We use Database of Genomic Variants (DGV) and CNV calls from SNP-array intensity data in 1,008 Chinese healthy men as reference.Results: 11.17% of patients were identified to have KCTD13 CNV deletion, significantly higher than 0.05% in DGV (P 0.05).We demonstrate KCTD13 CNV deletion is strongly associated with hypospadias and its severity, but duplication is not, characterizing KCTD13 genetic variation in more detail than previously described.