{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,26]],"date-time":"2026-09-26T05:42:43Z","timestamp":1790401363973,"version":"4.1.0"},"reference-count":16,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2016,1,20]],"date-time":"2016-01-20T00:00:00Z","timestamp":1453248000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2016,5]]},"abstract":"Mayer\u2013Rokitansky\u2013K\u00fcster\u2013Hauser syndrome (MRKHS<\/jats:styled-content>) is a well\u2010known malformation pattern of the M\u00fcllerian ducts (MDs<\/jats:styled-content>) characterized by congenital absence of the uterus and vagina. To date, most cases remain unexplained at molecular level. As female Wnt9b\u2010\/\u2010<\/jats:italic> mice show a MRKHS<\/jats:styled-content>\u2010like phenotype, WNT9B<\/jats:styled-content><\/jats:italic> has emerged as a promising candidate gene for this disease. We performed retrospective sequence analyses of WNT9B<\/jats:styled-content><\/jats:italic> in 226 female patients with disorders of the MDs<\/jats:styled-content>, including 109 patients with MRKHS<\/jats:styled-content>, as well as in 135 controls. One nonsense mutation and five likely pathogenic missense mutations were detected in WNT9B<\/jats:styled-content><\/jats:italic>. Five of these mutations were found in cases with MRKHS<\/jats:styled-content> accounting for 4.6% of the patients with this phenotype. No pathogenic mutations were detected in the control group (p = 0.017). Interestingly, all of the MRKHS<\/jats:styled-content> patients with a WNT9B<\/jats:styled-content><\/jats:italic> mutation were classified as MRKHS<\/jats:styled-content> type 1, representing 8.5% of the cases from this subgroup. In previous studies, two of the patients with a WNT9B<\/jats:styled-content><\/jats:italic> mutation were found to carry either an additional deletion of LHX1<\/jats:styled-content><\/jats:italic> or a missense mutation in TBX6<\/jats:styled-content><\/jats:italic>. We conclude that mutations in WNT9B<\/jats:styled-content><\/jats:italic> were frequently associated with MRKHS<\/jats:styled-content> in our cohort and some cases may be explained by a digenic disease model.<\/jats:p>","DOI":"10.1111\/cge.12701","type":"journal-article","created":{"date-parts":[[2015,11,27]],"date-time":"2015-11-27T04:59:08Z","timestamp":1448600348000},"page":"590-596","source":"Crossref","is-referenced-by-count":55,"title":["Mutations in WNT9B<\/scp><\/i> are associated with Mayer\u2013Rokitansky\u2013K\u00fcster\u2013Hauser syndrome"],"prefix":"10.1111","volume":"89","author":[{"given":"D.E.J.","family":"Waschk","sequence":"first","affiliation":[{"name":"Institute of Human Genetics University Hospital of M\u00fcnster M\u00fcnster Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A.\u2010C.","family":"Tewes","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics University Hospital of M\u00fcnster M\u00fcnster 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