{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,29]],"date-time":"2026-09-29T02:00:33Z","timestamp":1790647233927,"version":"4.1.0"},"reference-count":20,"publisher":"Wiley","license":[{"start":{"date-parts":[[2026,9,28]],"date-time":"2026-09-28T00:00:00Z","timestamp":1790553600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2026,9,28]],"date-time":"2026-09-28T00:00:00Z","timestamp":1790553600000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"funder":[{"DOI":"10.13039\/501100003554","name":"Lundbeck Foundation","doi-asserted-by":"publisher","award":["R403\u20102022\u20101385"],"award-info":[{"award-number":["R403\u20102022\u20101385"]}],"id":[{"id":"10.13039\/501100003554","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100004836","name":"Danmarks Frie Forskningsfond","doi-asserted-by":"publisher","award":["4308\u201000243B"],"award-info":[{"award-number":["4308\u201000243B"]}],"id":[{"id":"10.13039\/501100004836","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Genetics"],"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>\n                    Genetic etiologies of M\u00fcllerian aplasia (Mayer\u2013Rokitansky\u2013K\u00fcster\u2013Hauser syndrome) remain poorly understood. Identification of patients with monogenic syndromes presenting with M\u00fcllerian aplasia may help improve our knowledge of the underlying biology. We investigated a 15\u2010year\u2010old female presenting with primary amenorrhea due to M\u00fcllerian aplasia, dysmorphic features, and intellectual disability. Trio whole genome sequencing identified a pathogenic\n                    <jats:italic>de novo<\/jats:italic>\n                    missense variant in NM_003073.5(\n                    <jats:italic>SMARCB1<\/jats:italic>\n                    ): c.1096C&gt;T, p.(Arg366Cys) confirming the diagnosis of Coffin\u2013Siris syndrome 3 (OMIM #614608). This patient represents the first molecularly confirmed case of Coffin\u2013Siris syndrome presenting with M\u00fcllerian aplasia; however, two previous clinical reports support this potential rare association. Research is needed to further investigate this possible association, determine the prevalence of M\u00fcllerian aplasia in adolescent\/adult female patients with Coffin\u2013Siris syndrome and whether it may be associated with other BAF (BRG1\/BRM\u2010associated factor) complex genes than\n                    <jats:italic>SMARCB1<\/jats:italic>\n                    . Finally, it is unknown how BAF complex dysfunction may be involved in perturbed M\u00fcllerian duct development in females.\n                  <\/jats:p>","DOI":"10.1111\/cge.70257","type":"journal-article","created":{"date-parts":[[2026,9,29]],"date-time":"2026-09-29T01:10:32Z","timestamp":1790644232000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["M\u00fcllerian Duct Aplasia in a Girl With\n                    <scp>\n                      <i>SMARCB1<\/i>\n                    <\/scp>\n                    \u2010Related Coffin\u2013Siris Syndrome: A Rare Co\u2010Occurring Anomaly"],"prefix":"10.1111","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-4916-0318","authenticated-orcid":false,"given":"Anneli C. S.","family":"Bolund","sequence":"first","affiliation":[{"name":"Department of Clinical Genetics Aarhus University Hospital  Aarhus Denmark"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4263-1815","authenticated-orcid":false,"given":"Esben Thyssen","family":"Vestergaard","sequence":"additional","affiliation":[{"name":"Department of Clinical Medicine Aarhus University  Aarhus Denmark"},{"name":"Department of Pediatrics and Adolescent Medicine Aarhus University Hospital  Aarhus Denmark"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4279-7188","authenticated-orcid":false,"given":"Edvard","family":"Marinovskij","sequence":"additional","affiliation":[{"name":"Department of Radiology Aarhus University Hospital  Aarhus Denmark"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0223-1673","authenticated-orcid":false,"given":"Dorte Launholt","family":"Lildballe","sequence":"additional","affiliation":[{"name":"Department of Clinical Medicine Aarhus University  Aarhus Denmark"},{"name":"Department of Molecular Medicine Aarhus University Hospital  Aarhus Denmark"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4110-7459","authenticated-orcid":false,"given":"Jenny","family":"Blechingberg","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics Aarhus University Hospital  Aarhus Denmark"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7179-4643","authenticated-orcid":false,"given":"Morten Krogh","family":"Herlin","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics Aarhus University Hospital  Aarhus Denmark"},{"name":"Department of Clinical Medicine Aarhus University  Aarhus Denmark"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2026,9,28]]},"reference":[{"issue":"1","key":"e_1_2_12_2_1","doi-asserted-by":"crossref","first-page":"214","DOI":"10.1186\/s13023-020-01491-9","article-title":"Mayer\u2010Rokitansky\u2010K\u00fcster\u2010Hauser (MRKH) Syndrome: A Comprehensive Update","volume":"15","author":"Herlin M. K.","year":"2020","journal-title":"Orphanet Journal of Rare Diseases"},{"issue":"3","key":"e_1_2_12_3_1","doi-asserted-by":"crossref","first-page":"624","DOI":"10.1016\/S0015-0282(01)01963-X","article-title":"A Population\u2010Based Study of the Incidence of M\u00fcllerian Aplasia in Finland","volume":"76","author":"Aittom\u00e4ki K.","year":"2001","journal-title":"Fertility and Sterility"},{"issue":"10","key":"e_1_2_12_4_1","doi-asserted-by":"crossref","first-page":"2384","DOI":"10.1093\/humrep\/dew220","article-title":"Prevalence and Patient Characteristics of Mayer\u2010Rokitansky\u2010K\u00fcster\u2010Hauser Syndrome: A Nationwide Registry\u2010Based Study","volume":"31","author":"Herlin M.","year":"2016","journal-title":"Human Reproduction"},{"key":"e_1_2_12_5_1","doi-asserted-by":"crossref","first-page":"1368990","DOI":"10.3389\/fendo.2024.1368990","article-title":"Genetics of Mayer\u2010Rokitansky\u2010K\u00fcster\u2010Hauser (MRKH) Syndrome: Advancements and Implications","volume":"15","author":"Herlin M. K.","year":"2024","journal-title":"Frontiers in Endocrinology (Lausanne)"},{"issue":"3","key":"e_1_2_12_6_1","doi-asserted-by":"crossref","first-page":"luaf009","DOI":"10.1210\/jcemcr\/luaf009","article-title":"Co\u2010Occurrence of Sotos Syndrome and Mayer\u2010Rokitansky\u2010K\u00fcster\u2010Hauser (MRKH) Syndrome in 2 Patients","volume":"3","author":"Mustafa M.","year":"2025","journal-title":"JCEM Case Reports"},{"issue":"9","key":"e_1_2_12_7_1","doi-asserted-by":"crossref","first-page":"2329","DOI":"10.1002\/ajmg.a.34153","article-title":"A New Case of HDR Syndrome With Severe Female Genital Tract Malformation: Comment on \u201cNovel Mutation in the Gene Encoding the GATA3 Transcription Factor in a Spanish Familial Case of Hypoparathyroidism, Deafness, and Renal Dysplasia (HDR) Syndrome With Female Genital Tract Malformations\u201d by Hern\u00e1ndez et\u00a0al","volume":"155","author":"Moldovan O.","year":"2011","journal-title":"American Journal of Medical Genetics \u2010 Seminars in Medical Genetics, Part A"},{"issue":"1","key":"e_1_2_12_8_1","first-page":"12","article-title":"The Coffin\u2010Siris Syndrome","volume":"139","author":"Coffin G. S.","year":"1985","journal-title":"American Journal of Diseases of Children"},{"key":"e_1_2_12_9_1","doi-asserted-by":"crossref","first-page":"354","DOI":"10.1186\/1752-1947-4-354","article-title":"Coffin\u2010Siris Syndrome With Mayer\u2010Rokitansky\u2010K\u00fcster\u2010Hauser Syndrome: A Case Report","volume":"4","author":"Goyal D.","year":"2010","journal-title":"Journal of Medical Case Reports"},{"issue":"8","key":"e_1_2_12_10_1","doi-asserted-by":"crossref","first-page":"2141","DOI":"10.1002\/ajmg.a.37775","article-title":"Etiologies of Uterine Malformations","volume":"170","author":"Jacquinet A.","year":"2016","journal-title":"American Journal of Medical Genetics. Part A"},{"issue":"5","key":"e_1_2_12_11_1","first-page":"433","article-title":"Mental Retardation With Absent Fifth Fingernail and Terminal Phalanx","volume":"119","author":"Coffin G. 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C.","year":"1978","journal-title":"American Journal of Diseases of Children"},{"issue":"25","key":"e_1_2_12_13_1","doi-asserted-by":"crossref","first-page":"5121","DOI":"10.1093\/hmg\/ddt366","article-title":"A Comprehensive Molecular Study on Coffin\u2010Siris and Nicolaides\u2010Baraitser Syndromes Identifies a Broad Molecular and Clinical Spectrum Converging on Altered Chromatin Remodeling","volume":"22","author":"Wieczorek D.","year":"2013","journal-title":"Human Molecular Genetics"},{"issue":"1","key":"e_1_2_12_14_1","doi-asserted-by":"crossref","first-page":"4885","DOI":"10.1038\/s41467-018-07193-y","article-title":"Bafopathies' DNA Methylation Epi\u2010Signatures Demonstrate Diagnostic Utility and Functional Continuum of Coffin\u2010Siris and Nicolaides\u2010Baraitser Syndromes","volume":"9","author":"Aref\u2010Eshghi E.","year":"2018","journal-title":"Nature Communications"},{"issue":"4","key":"e_1_2_12_15_1","doi-asserted-by":"crossref","first-page":"376","DOI":"10.1038\/ng.2219","article-title":"Mutations Affecting Components of the SWI\/SNF Complex Cause Coffin\u2010Siris Syndrome","volume":"44","author":"Tsurusaki Y.","year":"2012","journal-title":"Nature Genetics"},{"key":"e_1_2_12_16_1","volume-title":"GeneReviews","author":"Schrier Vergano S.","year":"1993"},{"issue":"6","key":"e_1_2_12_17_1","doi-asserted-by":"crossref","first-page":"937","DOI":"10.3390\/genes12060937","article-title":"Genotype\u2010Phenotype Correlations in 208 Individuals With Coffin\u2010Siris Syndrome","volume":"12","author":"Vasko A.","year":"2021","journal-title":"Genes (Basel)"},{"issue":"5","key":"e_1_2_12_18_1","doi-asserted-by":"crossref","first-page":"681","DOI":"10.1016\/j.jpag.2021.04.013","article-title":"A Retrospective Analysis of Female M\u00fcllerian Duct Anomalies in Association With Congenital Renal Abnormalities","volume":"34","author":"Mooren E. R. M.","year":"2021","journal-title":"Journal of Pediatric and Adolescent Gynecology"},{"issue":"3","key":"e_1_2_12_19_1","doi-asserted-by":"crossref","first-page":"100188","DOI":"10.1016\/j.xhgg.2023.100188","article-title":"Rare Variant Enrichment Analysis Supports GREB1L as a Contributory Driver Gene in the Etiology of Mayer\u2010Rokitansky\u2010K\u00fcster\u2010Hauser Syndrome","volume":"4","author":"Jolly A.","year":"2023","journal-title":"Human Genetics and Genomics Advances"},{"issue":"2","key":"e_1_2_12_20_1","doi-asserted-by":"crossref","first-page":"113","DOI":"10.1136\/jmg-2025-110805","article-title":"Genetic and Embryonic Transcriptome Analyses Reveal the Molecular and Developmental Basis of Mayer\u2010Rokitansky\u2010K\u00fcster\u2010Hauser Syndrome","volume":"63","author":"Chen N.","year":"2026","journal-title":"Journal of Medical Genetics"},{"issue":"12","key":"e_1_2_12_21_1","doi-asserted-by":"crossref","first-page":"4177","DOI":"10.1007\/s10815-025-03691-3","article-title":"Genetic Analyses Using Chromosomal Microarray and Exome Sequencing in Fetuses and Women With M\u00fcllerian Duct Anomalies","volume":"42","author":"Cospain A.","year":"2025","journal-title":"Journal of Assisted Reproduction and Genetics"}],"container-title":["Clinical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/cge.70257","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1111\/cge.70257","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/cge.70257","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,9,29]],"date-time":"2026-09-29T01:10:36Z","timestamp":1790644236000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/cge.70257"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,9,28]]},"references-count":20,"alternative-id":["10.1111\/cge.70257"],"URL":"https:\/\/doi.org\/10.1111\/cge.70257","archive":["Portico"],"relation":{},"ISSN":["0009-9163","1399-0004"],"issn-type":[{"value":"0009-9163","type":"print"},{"value":"1399-0004","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,9,28]]},"assertion":[{"value":"2026-05-02","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2026-09-23","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2026-09-28","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}],"article-number":"cge.70257"}}