| Accession |
PRJCA028577 |
| Title |
Novel evidence of CNV deletion in KCTD13 related to the severity of isolated hypospadias in Chinese population |
| Relevance |
Medical |
| Data types |
Variation
|
| Organisms |
Homo sapiens
|
| Description |
Hypospadias is one of genitourinary (GU) tract anomalies in pediatrics. Copy number variant (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 isolated hypospadias. In this study, we found that KCTD13 CNV deletion was significantly associated with hypospadias risk in Chinese population, but duplication was not. It was the first reported study demonstrating a relationship between KCTD13 CNV and susceptibility to isolated hypospadias in Chinese population. At the same time, the finding provided another evidence that CNV deletion in KCTD13 contributed to severity of hypospadias risk, which may improve our understanding of its potential genetic etiology and human genital development. Results from our study indicate that the detection of CNV deletion in KCTD13 provides a foundation for the further clinical implementation of gene screening and enhancing high-risk screening for individuals in real world. Further studies in larger general populations are still needed. |
| Sample scope |
Multiisolate |
| Release date |
2024-07-27 |
| Grants |
| Agency |
program |
Grant ID |
Grant title |
| Science and Technology Commission of Shanghai Municipality
|
|
No.23Y21900100
|
|
| Shanghai Children's Hospital
|
|
No.2021YGZM03
|
|
|
|
| Submitter |
Yijing
Chen (chenyijing0106@163.com)
|
| Organization |
Children's Hospital of Shanghai Jiaotong University |
| Submission date |
2024-07-27 |
