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

ABSTRACT:

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 < 0.001), but no cases found to have CNV duplication. Meanwhile, no CNV calls encompassing KCTD13 region were detected in

SUBMITTER: Chen Y 

PROVIDER: S-EPMC11420791 | biostudies-literature | 2024

REPOSITORIES: biostudies-literature