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ORIGINAL RESEARCH article

Front. Pediatr.
Sec. Pediatric Urology
Volume 12 - 2024 | doi: 10.3389/fped.2024.1409264

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

Provisionally accepted
Yijing Chen Yijing Chen 1Lijun Zhou Lijun Zhou 1Fang Chen Fang Chen 1Zhongzhong Chen Zhongzhong Chen 1Yichen Huang Yichen Huang 1Yiqing Lv Yiqing Lv 1Min Wu Min Wu 1Xiaoling Lin Xiaoling Lin 1*Hua Xie Hua Xie 1,2*
  • 1 Shanghai Children's Hospital, Shanghai, Shanghai Municipality, China
  • 2 Shanghai Jiao Tong University, Shanghai, China

The final, formatted version of the article will be published soon.

    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 Chinese healthy men. Incidence of KCTD13 CNV deletion was significantly increased with the severity of hypospadias, P_trend = 9.00×10 -6 . Compared to distal hypospadias, ORs for the proximal and midshaft were 10.07(2.91-34.84) and 6.08 (1.69-21.84) respectively. In addition, the association between genital characteristics (stretched penile length and glans width) and KCTD13 CNV showed no significance in hypospadias children (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.

    Keywords: copy number variation, Isolated hypospadias, Chinese children, KCTD13, severity

    Received: 29 Mar 2024; Accepted: 24 Jun 2024.

    Copyright: © 2024 Chen, Zhou, Chen, Chen, Huang, Lv, Wu, Lin and Xie. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) or licensor are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.

    * Correspondence:
    Xiaoling Lin, Shanghai Children's Hospital, Shanghai, 200062, Shanghai Municipality, China
    Hua Xie, Shanghai Jiao Tong University, Shanghai, China

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