Application and insights of targeted next-generation sequencing in a large cohort of 46,XY disorders of sex development in Chinese
The overall genetic diagnostic rate was 11.2%(45/402), with an additional 15.4% (62/402) having variants of uncertain significance. Additionally, trio/duo patients had a higher genetic diagnostic rate (13.4%) compared to singletons (8.6%), with a higher proportion of singletons (15.1%) presenting variants of uncertain significance. In conclusion, targeted gene panels identified pathogenic variants in a Chinese 46,XY DSD cohort, expanding the genetic understanding and providing evidence for known pathogenic genes' involvement.
Authors
- Linfeng Zhu (ORCID: https://orcid.org/0000-0002-1634-6212)
- Xiang Yan (ORCID: https://orcid.org/0000-0002-3683-474X)
- Guangjie Chen (ORCID: https://orcid.org/0000-0002-5446-6784)
- Yong Huang (ORCID: https://orcid.org/0009-0000-2013-0054)
- Lan Yu (ORCID: https://orcid.org/0000-0002-8693-5987)
- Fengxia Li (ORCID: https://orcid.org/0000-0001-6466-8526)
- Ziyi Jiang (ORCID: https://orcid.org/0000-0002-8300-6349)
- Yijun Zhao
- Hongyu Chen (ORCID: https://orcid.org/0000-0002-3926-1959)
Institutions
- Children's Hospital of Zhejiang University (CN)
Publication Details
- Journal
- Biology of Sex Differences
- Published
- 2024-09-16
- DOI
- https://doi.org/10.1186/s13293-024-00648-6
- Citations
- 4
- Primary Topic
- Sexual Differentiation and Disorders
- Type
- article
- Field-Weighted Citation Impact
- 0.94