{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,19]],"date-time":"2026-01-19T00:13:55Z","timestamp":1768781635146,"version":"3.49.0"},"reference-count":12,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2018,8,11]],"date-time":"2018-08-11T00:00:00Z","timestamp":1533945600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100001659","name":"Deutsche Forschungsgemeinschaft","doi-asserted-by":"publisher","award":["EG110\/15\u20101"],"award-info":[{"award-number":["EG110\/15\u20101"]}],"id":[{"id":"10.13039\/501100001659","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100002347","name":"Bundesministerium f\u00fcr Bildung und Forschung","doi-asserted-by":"publisher","award":["01GM1513B"],"award-info":[{"award-number":["01GM1513B"]}],"id":[{"id":"10.13039\/501100002347","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Molec Gen & Gen Med"],"published-print":{"date-parts":[[2018,11]]},"abstract":"Abstract<\/jats:title>Background<\/jats:title>Mayer\u2013Rokitansky\u2013K\u00fcster\u2013Hauser syndrome (MRKH<\/jats:styled-content>) is the second most common cause of primary amenorrhea and characterized by absence of the uterus and the upper part of the vagina. The etiology of MRKH<\/jats:styled-content> is mainly unknown but a contribution of genomic alterations is probable. A molecular disturbance so far neglected in MRKH<\/jats:styled-content> research is aberrant methylation at imprinted loci. In fact, MRKH<\/jats:styled-content> has been reported in patients with the imprinting disorder Silver\u2013Russell syndrome.<\/jats:p><\/jats:sec>Methods<\/jats:title>We report on a rare patient with MRKH<\/jats:styled-content> and SRS<\/jats:styled-content> due to an ICR<\/jats:styled-content>1\u00a0hypomethylation in 11p15.5. On the basis of this observation we screened a large cohort of MRKH<\/jats:styled-content> patients (n<\/jats:italic>\u00a0>\u00a0100) for aberrant methylation at nine imprinted loci.<\/jats:p><\/jats:sec>Results<\/jats:title>We failed to detect any epimutation, thus we conclude that imprinting defects at least at the currently known disease\u2010relevant imprinted loci do not contribute to the isolated MRKH<\/jats:styled-content> phenotype. However, it cannot be excluded that altered methylation marks at other loci are involved in the etiology of MRKH<\/jats:styled-content>.<\/jats:p><\/jats:sec>Conclusion<\/jats:title>The molecular basis for MRKH<\/jats:styled-content> remains unclear in the majority of patients, but future studies on the association between MRKH<\/jats:styled-content> and ICR<\/jats:styled-content>1 hypomethylation\/SRS<\/jats:styled-content> will to enlighten the role of epigenetics in the etiology of MRKH<\/jats:styled-content>.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mgg3.426","type":"journal-article","created":{"date-parts":[[2018,8,12]],"date-time":"2018-08-12T04:09:18Z","timestamp":1534046958000},"page":"1225-1228","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":6,"title":["Search for altered imprinting marks in Mayer\u2013Rokitansky\u2013K\u00fcster\u2013Hauser patients"],"prefix":"10.1002","volume":"6","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-8419-0264","authenticated-orcid":false,"given":"Thomas","family":"Eggermann","sequence":"first","affiliation":[{"name":"Institute of Human Genetics Technical University RWTH Aachen Aachen Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Susanne","family":"Ledig","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics University of M\u00fcnster M\u00fcnster Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Matthias","family":"Begemann","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics Technical University RWTH Aachen Aachen Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5088-1369","authenticated-orcid":false,"given":"Miriam","family":"Elbracht","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics Technical University RWTH Aachen Aachen Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ingo","family":"Kurth","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics Technical University RWTH Aachen Aachen Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Peter","family":"Wieacker","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics University of M\u00fcnster M\u00fcnster Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2018,8,11]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1111\/jpc.12778"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1007\/s004040100172"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1086\/502981"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2009.069427"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1111\/cge.12883"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.37775"},{"key":"e_1_2_7_8_1","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2007-0354"},{"key":"e_1_2_7_9_1","first-page":"837","article-title":"The spectrum of Silver\u2013Russell syndrome: A clinical and molecular genetic study and new diagnostic criteria","volume":"36","author":"Price S. M.","year":"1999","journal-title":"Journal of Medical Genetics"},{"key":"e_1_2_7_10_1","first-page":"147","article-title":"Aplasia of the M\u00fcllerian system: Evidence for probable sex\u2010limited autosomal dominant inheritance","volume":"14","author":"Shokeir M. H.","year":"1978","journal-title":"Birth Defects Original Article Series"},{"key":"e_1_2_7_11_1","doi-asserted-by":"publisher","DOI":"10.1111\/cge.12827"},{"key":"e_1_2_7_12_1","doi-asserted-by":"publisher","DOI":"10.1089\/gtmb.2015.0163"},{"key":"e_1_2_7_13_1","doi-asserted-by":"publisher","DOI":"10.1038\/nrendo.2016.138"}],"container-title":["Molecular Genetics & Genomic Medicine"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fmgg3.426","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/mgg3.426","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,15]],"date-time":"2023-09-15T23:28:30Z","timestamp":1694820510000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/mgg3.426"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2018,8,11]]},"references-count":12,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2018,11]]}},"alternative-id":["10.1002\/mgg3.426"],"URL":"https:\/\/doi.org\/10.1002\/mgg3.426","archive":["Portico"],"relation":{},"ISSN":["2324-9269","2324-9269"],"issn-type":[{"value":"2324-9269","type":"print"},{"value":"2324-9269","type":"electronic"}],"subject":[],"published":{"date-parts":[[2018,8,11]]},"assertion":[{"value":"2018-03-13","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2018-06-05","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2018-08-11","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}