{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,23]],"date-time":"2026-04-23T00:51:58Z","timestamp":1776905518671,"version":"3.51.2"},"reference-count":19,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2026,4,16]],"date-time":"2026-04-16T00:00:00Z","timestamp":1776297600000},"content-version":"vor","delay-in-days":15,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"},{"start":{"date-parts":[[2026,4,1]],"date-time":"2026-04-01T00:00:00Z","timestamp":1775001600000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":["obgyn.onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["J of Obstet and Gynaecol"],"published-print":{"date-parts":[[2026,4]]},"abstract":"ABSTRACT<\/jats:title>\n \n Introduction<\/jats:title>\n \n There is a dearth of knowledge on the genetic background of Indian 46,XX DSD patients with Mullerian agenesis (MA) and\/or gonadal dysgenesis (GD). Being one of the key controlling genes in female sex determination\/differentiation, there is a paucity of study regarding the association of\n RSPO1<\/jats:italic>\n variations with MA\/GD. Hence in this study, we screened proximal as well as exonic regions of the\n RSPO1<\/jats:italic>\n gene in 25 Indian 46,XX DSD patients with MA and\/or GD.\n <\/jats:p>\n <\/jats:sec>\n \n Methodology<\/jats:title>\n \n Bidirectional PCR\u2010Sanger sequencing was performed with\n RSPO1<\/jats:italic>\n proximal promoter and coding sequence\u2010specific primers. The identified noncoding and coding variations were analyzed using various population and microRNA databases and in silico tools.\n <\/jats:p>\n <\/jats:sec>\n \n Results<\/jats:title>\n We observed three promoters (c.\u20101189C>G;rs10908365, c.\u20101112G>A;rs59740072, and c.\u20101038T>C;rs11585920), two 5\u2032 UTRs (c.\u2010247C>G;rs187926864 and c.\u2010119G>A;rs530760760), four intronic (c.286+33G>A;rs12039431, c.286+34C>T;rs12046650, c.95\u201034C>G;rs45577433, and c.94+37G>A), and a missense variant (c.484A>C;p.Lys162Gln) in our study subjects. In pathogenic prediction, the identified variations were found to be normal.<\/jats:p>\n <\/jats:sec>\n \n Conclusion<\/jats:title>\n \n Although no clearly pathogenic\n RSPO1<\/jats:italic>\n variants were identified, this study contributes important data on\n RSPO1<\/jats:italic>\n sequence variation in 46,XX DSD cases involving MA and GD.\n <\/jats:p>\n <\/jats:sec>","DOI":"10.1111\/jog.70284","type":"journal-article","created":{"date-parts":[[2026,4,17]],"date-time":"2026-04-17T06:30:54Z","timestamp":1776407454000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Exploring the Involvement of\n RSPO1<\/i>\n Gene Variations in 46,XX DSD Patients With Mullerian Agenesis and\/or Gonadal Dysgenesis\u2014An Indian Study"],"prefix":"10.1111","volume":"52","author":[{"given":"Ragitha","family":"T. S.","sequence":"first","affiliation":[{"name":"Department of Zoology Maharajas College (Autonomous) Cochin India"},{"name":"Cytogenetics and Genomics Laboratory, Jubilee Centre for Medical Research, JMMC&RI Thrissur India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1362-2939","authenticated-orcid":false,"given":"Sunish","family":"K. S.","sequence":"additional","affiliation":[{"name":"Department of Zoology Maharajas College (Autonomous) Cochin India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Saley","family":"Daniel","sequence":"additional","affiliation":[{"name":"Department of Gynaecology JMMC& RI Thrissur India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Saritha","family":"F.","sequence":"additional","affiliation":[{"name":"Laboratory for Computational and Structural Biology Jubilee Centre for Medical Research, JMMC&RI Thrissur India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sareena","family":"Gilvaz","sequence":"additional","affiliation":[{"name":"Department of Gynaecology JMMC& RI Thrissur India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dileep","family":"K. V.","sequence":"additional","affiliation":[{"name":"Laboratory for Computational and Structural Biology Jubilee Centre for Medical Research, JMMC&RI Thrissur India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jijo","family":"Francis","sequence":"additional","affiliation":[{"name":"Cytogenetics and Genomics Laboratory, Jubilee Centre for Medical Research, JMMC&RI Thrissur India"},{"name":"Department of Zoology Christ College, Affiliated to the University of Calicut, Irinjalakuda Thrissur India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Varghese","family":"Pulikkottil Raphael","sequence":"additional","affiliation":[{"name":"Cytogenetics and Genomics Laboratory, Jubilee Centre for Medical Research, JMMC&RI Thrissur India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8996-3951","authenticated-orcid":false,"given":"Suresh Kumar","family":"Raveendran","sequence":"additional","affiliation":[{"name":"Cytogenetics and Genomics Laboratory, Jubilee Centre for Medical Research, JMMC&RI Thrissur India"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2026,4,16]]},"reference":[{"key":"e_1_2_13_2_1","doi-asserted-by":"publisher","DOI":"10.1542\/peds.2006\u20100738"},{"key":"e_1_2_13_3_1","doi-asserted-by":"publisher","DOI":"10.1097\/AOG.0000000000002458"},{"key":"e_1_2_13_4_1","volume-title":"Genetics, Gonadal Dysgenesis","author":"Breehl L.","year":"2023"},{"key":"e_1_2_13_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/J.GENE.2018.11.098"},{"key":"e_1_2_13_6_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1907"},{"key":"e_1_2_13_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.20665"},{"key":"e_1_2_13_8_1","doi-asserted-by":"publisher","DOI":"10.1159\/000485393"},{"key":"e_1_2_13_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.38646"},{"key":"e_1_2_13_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.biocel.2006.06.007"},{"key":"e_1_2_13_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.gene.2023.147236"},{"key":"e_1_2_13_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ceb.2008.03.003"},{"key":"e_1_2_13_13_1","doi-asserted-by":"publisher","DOI":"10.1093\/humrep\/deh547"},{"key":"e_1_2_13_14_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.eurox.2019.100089"},{"key":"e_1_2_13_15_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.62063"},{"key":"e_1_2_13_16_1","doi-asserted-by":"publisher","DOI":"10.4274\/jcrpe.galenos.2019.2019.0101"},{"key":"e_1_2_13_17_1","doi-asserted-by":"publisher","DOI":"10.1007\/s12038\u2010017\u20109686\u20105"},{"key":"e_1_2_13_18_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1469\u20107580.2008.00921.x"},{"key":"e_1_2_13_19_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0154158"},{"key":"e_1_2_13_20_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.molmed.2012.06.006"}],"container-title":["Journal of Obstetrics and Gynaecology Research"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/obgyn.onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/jog.70284","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/obgyn.onlinelibrary.wiley.com\/doi\/full-xml\/10.1111\/jog.70284","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/obgyn.onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/jog.70284","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,4,23]],"date-time":"2026-04-23T00:15:12Z","timestamp":1776903312000},"score":1,"resource":{"primary":{"URL":"https:\/\/obgyn.onlinelibrary.wiley.com\/doi\/10.1111\/jog.70284"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,4]]},"references-count":19,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2026,4]]}},"alternative-id":["10.1111\/jog.70284"],"URL":"https:\/\/doi.org\/10.1111\/jog.70284","archive":["Portico"],"relation":{},"ISSN":["1341-8076","1447-0756"],"issn-type":[{"value":"1341-8076","type":"print"},{"value":"1447-0756","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,4]]},"assertion":[{"value":"2025-10-08","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2026-04-07","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2026-04-16","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}],"article-number":"e70284"}}