Genetic and embryonic transcriptome analyses reveal the molecular and developmental basis of Mayer-Rokitansky-Küster-Hauser syndrome
Our study reveals both established and novel genetic contributors to MRKHS, links them to specific embryonic cell types and stages, and highlights potential digenic inheritance patterns. Integrating genetic burden and single-cell transcriptomic data provides new insights into the complex molecular mechanisms underlying MRKHS.
Authors
- Xijuan Lin (ORCID: https://orcid.org/0009-0005-8754-0388)
- Xi Cheng (ORCID: https://orcid.org/0000-0001-7731-9800)
- Nan Wu (ORCID: https://orcid.org/0000-0002-9429-2889)
- Jia Kang (ORCID: https://orcid.org/0000-0002-7531-3971)
- Pengfei Liu (ORCID: https://orcid.org/0000-0001-8709-0771)
- Lan Zhu (ORCID: https://orcid.org/0000-0001-5753-5426)
- Jianzhong Su (ORCID: https://orcid.org/0000-0003-1054-6042)
- Yuchen Niu (ORCID: https://orcid.org/0000-0001-9443-0586)
- Hengqiang Zhao (ORCID: https://orcid.org/0000-0001-6453-4130)
- Yuan Wang (ORCID: https://orcid.org/0000-0002-5215-0487)
- Qing Li (ORCID: https://orcid.org/0000-0002-3666-9879)
- Jianguo Zhang (ORCID: https://orcid.org/0000-0003-3129-5190)
- Yaru Zhang (ORCID: https://orcid.org/0000-0002-6167-7248)
- Na Chen (ORCID: https://orcid.org/0000-0001-9463-372X)
- Jing Yu (ORCID: https://orcid.org/0000-0003-2836-6373)
- Sen Zhao (ORCID: https://orcid.org/0000-0001-9418-4231)
- Shan Deng (ORCID: https://orcid.org/0000-0002-9645-5397)
- Jianbin Guo
- Zhihong Wu (ORCID: https://orcid.org/0000-0003-3691-2389)
- Wanlu Liu (ORCID: https://orcid.org/0000-0001-5963-2908)
- Jiali Duan (ORCID: https://orcid.org/0000-0003-4024-0300)
- Qianqian Gao (ORCID: https://orcid.org/0000-0001-9858-4187)
- Chenglu Qin
Institutions
- Baylor College of Medicine (US)
- Chinese Academy of Medical Sciences & Peking Union Medical College (CN)
- Wenzhou Medical University (CN)
- Peking Union Medical College Hospital (CN)
- Shenzhen Luohu People's Hospital (CN)
- Second Affiliated Hospital of Zhejiang University (CN)
- Zhejiang University-University of Edinburgh Institute (CN)
- First Affiliated Hospital Zhejiang University (CN)
Publication Details
- Journal
- Journal of Medical Genetics
- Published
- 2025-11-13
- DOI
- https://doi.org/10.1136/jmg-2025-110805
- Primary Topic
- Gynecological conditions and treatments
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- National Natural Science Foundation of China
- Chinese Academy of Medical Sciences
- Peking Union Medical College Hospital
- Peking Union Medical College
- National Key Research and Development Program of China