{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,18]],"date-time":"2026-08-18T01:15:18Z","timestamp":1787015718277,"version":"build-2736575974"},"reference-count":41,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2020,2,10]],"date-time":"2020-02-10T00:00:00Z","timestamp":1581292800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"name":"Beijing Obstetrics and Gynecology Hospital, Capital Medical University","award":["FCYY201504"],"award-info":[{"award-number":["FCYY201504"]}]},{"name":"Beijing Obstetrics and Gynecology Hospital, Capital Medical University","award":["FCYY201714"],"award-info":[{"award-number":["FCYY201714"]}]}],"content-domain":{"domain":["obgyn.onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["J of Obstet and Gynaecol"],"published-print":{"date-parts":[[2020,5]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Aim<\/jats:title>\n                    <jats:p>Mullerian duct anomalies (MDA) are common female genital tract malformations. Genetic and environmental factors are important causes of MDA in women. Although many genes and mutations have been found to be associated with the pathogenesis of MDA, in most cases, the genetic pathogenic factors of MDA are still unknown.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>\n                      We first analyzed the three sisters using low coverage whole\u2010genome sequencing. Then whole\u2010exome sequencing was carried out in each patient. The identified sequence variant was confirmed by Sanger sequencing.\n                      <jats:italic>In silico<\/jats:italic>\n                      pathogenicity analysis and conservative analysis of the mutation site were also performed. Protein structural modeling was used to analyze the effect of the mutated amino acid.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      We first analyzed the three sisters with septate uterus using low coverage whole\u2010genome sequencing, but no possible pathogenic copy number variation was found. Then whole\u2010exome sequencing was performed on the three sisters, and a rare homozygous variant,\n                      <jats:italic>CDC42BPB<\/jats:italic>\n                      :c.2012G&gt;A:p.R671Q, was identified. All three patients were found with this variant. Sanger sequencing validated that this variant was segregated within the family.\n                      <jats:italic>In silico<\/jats:italic>\n                      pathogenicity analysis and conservative analysis of the mutation site suggested that the variant might be damaging. Protein structural analysis suggested that R671Q might weaken the electrostatic potential of this region, which may be a significant regulation target or protein interaction surface of CDC42BPB.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>\n                      We demonstrated that\n                      <jats:italic>CDC42BPB<\/jats:italic>\n                      genetic variant might be potentially associated with the pathogenesis of MDA.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1111\/jog.14211","type":"journal-article","created":{"date-parts":[[2020,2,10]],"date-time":"2020-02-10T21:36:52Z","timestamp":1581370612000},"page":"684-693","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["Sequence variant in the\n                    <i>CDC42BPB<\/i>\n  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