{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,29]],"date-time":"2026-09-29T13:49:13Z","timestamp":1790689753188,"version":"4.1.0"},"reference-count":49,"publisher":"BMJ","issue":"2","license":[{"start":{"date-parts":[[2025,11,13]],"date-time":"2025-11-13T00:00:00Z","timestamp":1762992000000},"content-version":"unspecified","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"funder":[{"name":"Non-profit Central Research Institute Fund of Chinese Academy of Medical Sciences","award":["2019PT320025"],"award-info":[{"award-number":["2019PT320025"]}]},{"name":"National Key Clinical Specialty Construction Project","award":["U114000"],"award-info":[{"award-number":["U114000"]}]},{"DOI":"10.13039\/501100012166","name":"National Key Research and Development Program of China","doi-asserted-by":"publisher","award":["2023YFC2706001"],"award-info":[{"award-number":["2023YFC2706001"]}],"id":[{"id":"10.13039\/501100012166","id-type":"DOI","asserted-by":"publisher"}]},{"name":"Peking Union Medical College Hospital Outstanding Young Talent Development Program","award":["UBJ11383"],"award-info":[{"award-number":["UBJ11383"]}]},{"name":"Beijing Natural Science Foundation","award":["7232125"],"award-info":[{"award-number":["7232125"]}]},{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["82171614"],"award-info":[{"award-number":["82171614"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["82271656"],"award-info":[{"award-number":["82271656"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]},{"name":"National High-Level Hospital Clinical Research Funding","award":["2022-PUMCH-C-033"],"award-info":[{"award-number":["2022-PUMCH-C-033"]}]},{"name":"CAMS Innovation Fund for Medical Sciences","award":["2021-I2M-1-051"],"award-info":[{"award-number":["2021-I2M-1-051"]}]},{"name":"CAMS Innovation Fund for Medical Sciences","award":["2022-I2M-2-001"],"award-info":[{"award-number":["2022-I2M-2-001"]}]}],"content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["J Med Genet"],"accepted":{"date-parts":[[2025,10,19]]},"published-print":{"date-parts":[[2026,2]]},"abstract":"<jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>Mayer-Rokitansky-K\u00fcster-Hauser syndrome (MRKHS) is characterised by aplasia of the uterus, cervix and upper part of the vagina. The genetic aetiology remains incompletely understood.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>We performed gene-level and gene set-level burden analyses based on exome sequencing\/genome sequencing data from 727 probands with MRKHS and 2504 female control individuals. Single-cell RNA sequencing (scRNA-seq) was performed on human and mouse embryonic metanephros at different developmental stages. Genetic and transcriptomic data were integrated to prioritise suboptimal genetic signals, identify relevant cell types and determine key developmental stages. Potential digenic inheritance was assessed and prioritised using coexpression patterns from scRNA-seq data.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      We identified known MRKHS genes (\n                      <jats:italic>PAX8<\/jats:italic>\n                      ,\n                      <jats:italic>BMP7<\/jats:italic>\n                      ,\n                      <jats:italic>GREB1L<\/jats:italic>\n                      ) and novel candidates (\n                      <jats:italic>PAN2<\/jats:italic>\n                      ,\n                      <jats:italic>AGPAT2<\/jats:italic>\n                      ) with exome-wide significance. Enriched biological processes included cell apoptosis and mesenchymal-to-epithelial transition. In human embryos, MRKHS-associated genes were enriched in the uterine epithelium at eight gestational weeks (w8) and Wolffian duct epithelium at w11, supporting the biological relevance of burden signals. We detected 992 digenic combinations in MRKHS, with three achieving exome-wide significance (\n                      <jats:italic>CPSF3L\/CYP2A7<\/jats:italic>\n                      ,\n                      <jats:italic>AICDA\/NOS1<\/jats:italic>\n                      ,\n                      <jats:italic>EVC2\/KANK1<\/jats:italic>\n                      ).\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>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.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1136\/jmg-2025-110805","type":"journal-article","created":{"date-parts":[[2025,11,13]],"date-time":"2025-11-13T18:20:19Z","timestamp":1763058019000},"page":"113-122","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":2,"title":["Genetic and embryonic transcriptome analyses reveal the molecular and developmental basis of Mayer-Rokitansky-K\u00fcster-Hauser syndrome"],"prefix":"10.1136","volume":"63","author":[{"given":"Na","family":"Chen","sequence":"first","affiliation":[{"name":"National Clinical Research Center for Obstetric & Gynecologic Diseases, Department of Obstetrics and Gynecology, Peking UnionMedical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing, 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