Compound inheritance of rare and common RET variants in a Chinese family with three unfavorable pregnancies involving Hirschsprung's disease
Compound inheritance of rare and common RET variants was identified as the likely cause of the three adverse pregnancy outcomes in this family. Our study revealed that prenatal intervention and preimplantation genetic testing are recommended in this family. In addition, we speculated that compound inheritance may influence RET-related renal agenesis.
Authors
- Zhiming He
- Shaobin Lin (ORCID: https://orcid.org/0000-0002-3338-056X)
- Shanshan Shi (ORCID: https://orcid.org/0000-0002-7568-0499)
Institutions
- Sun Yat-sen University (CN)
- The First Affiliated Hospital, Sun Yat-sen University (CN)
- First Affiliated Hospital of Jinan University (CN)
Publication Details
- Journal
- Taiwanese Journal of Obstetrics and Gynecology
- Published
- 2025-09-01
- DOI
- https://doi.org/10.1016/j.tjog.2025.04.016
- Primary Topic
- Congenital gastrointestinal and neural anomalies
- Type
- article
- Field-Weighted Citation Impact
- 0.00