{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,20]],"date-time":"2026-09-20T07:11:17Z","timestamp":1789888277747,"version":"4.0.1"},"reference-count":21,"publisher":"Springer Science and Business Media LLC","issue":"1","content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Orphanet J Rare Dis"],"published-print":{"date-parts":[[2009,12]]},"abstract":"<jats:title>Abstract<\/jats:title>\n          <jats:sec>\n            <jats:title>Background<\/jats:title>\n            <jats:p>Mayer-Rokitansky-Kuster-Hauser syndrome (MRKH) consists of congenital aplasia of the uterus and the upper part of vagina due to anomalous development of M\u00fcllerian ducts, either isolated or associated with other congenital malformations, including renal, skeletal, hearing and heart defects. This disorder has an incidence of approximately 1 in 4500 newborn girls and the aetiology is poorly understood.<\/jats:p>\n          <\/jats:sec>\n          <jats:sec>\n            <jats:title>Methods and Results<\/jats:title>\n            <jats:p>we report on two patients affected by MRKH syndrome in which array-CGH analysis disclosed an identical deletion spanning 1.5 Mb of genomic DNA at chromosome 17q12. One patient was affected by complete absence of uterus and vagina, with bilaterally normal ovaries, while the other displayed agenesis of the upper part of vagina, right unicornuate uterus, non cavitating rudimentary left horn and bilaterally multicystic kidneys. The deletion encompassed two candidate genes, <jats:italic>TCF2<\/jats:italic> and <jats:italic>LHX1<\/jats:italic>. Mutational screening of these genes in a selected group of 20 MRKH females without 17q12 deletion was negative.<\/jats:p>\n          <\/jats:sec>\n          <jats:sec>\n            <jats:title>Conclusion<\/jats:title>\n            <jats:p>Deletion 17q12 is a rare albeit recurrent anomaly mediated by segmental duplications, previously reported in subjects with developmental kidney abnormalities and diabetes. The present two patients expand the clinical spectrum associated with this imbalance and suggest that this region is a candidate locus for a subset of MRKH syndrome individuals, with or without renal defects.<\/jats:p>\n          <\/jats:sec>","DOI":"10.1186\/1750-1172-4-25","type":"journal-article","created":{"date-parts":[[2009,11,4]],"date-time":"2009-11-04T19:14:30Z","timestamp":1257362070000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":121,"title":["Recurrent microdeletion at 17q12 as a cause of Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome: two case reports"],"prefix":"10.1186","volume":"4","author":[{"given":"Laura","family":"Bernardini","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stefania","family":"Gimelli","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cristina","family":"Gervasini","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Massimo","family":"Carella","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anwar","family":"Baban","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Giada","family":"Frontino","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Giancarlo","family":"Barbano","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria Teresa","family":"Divizia","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Luigi","family":"Fedele","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Antonio","family":"Novelli","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fr\u00e9d\u00e9rique","family":"B\u00e9na","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Faustina","family":"Lalatta","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Monica","family":"Miozzo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bruno","family":"Dallapiccola","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2009,11,4]]},"reference":[{"key":"159_CR1","doi-asserted-by":"publisher","first-page":"13","DOI":"10.1186\/1750-1172-2-13","volume":"2","author":"K Morcel","year":"2007","unstructured":"Morcel K, Camborieux L, Guerrier D: Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome. Orphanet J Rare Dis. 2007, 2: 13-10.1186\/1750-1172-2-13.","journal-title":"Orphanet J Rare Dis"},{"key":"159_CR2","doi-asserted-by":"publisher","first-page":"314","DOI":"10.1002\/ajmg.a.30721","volume":"135","author":"ST Pittock","year":"2005","unstructured":"Pittock ST, Babovic-Vuksanovic D, Lteif A: Mayer-Rokitansky-Kuster-Hauser anomaly and its associated malformations. Am J Med Genet A. 2005, 135: 314-316.","journal-title":"Am J Med Genet A"},{"key":"159_CR3","doi-asserted-by":"publisher","first-page":"224","DOI":"10.1002\/(SICI)1096-8628(19991229)89:4<224::AID-AJMG7>3.0.CO;2-C","volume":"89","author":"JL Simpson","year":"1999","unstructured":"Simpson JL: Genetics of the female reproductive ducts. Am J Med Genet. 1999, 89: 224-239. 10.1002\/(SICI)1096-8628(19991229)89:4<224::AID-AJMG7>3.0.CO;2-C.","journal-title":"Am J Med Genet"},{"key":"159_CR4","doi-asserted-by":"publisher","first-page":"224","DOI":"10.1093\/humrep\/del360","volume":"22","author":"A Biason-Lauber","year":"2007","unstructured":"Biason-Lauber A, De Filippo G, Konrad D, Scarano G, Nazzaro A, Schoenle EJ: WNT4 deficiency--a clinical phenotype distinct from the classic Mayer-Rokitansky-Kuster-Hauser syndrome: a case report. Hum Reprod. 2007, 22: 224-229. 10.1093\/humrep\/del360.","journal-title":"Hum Reprod"},{"key":"159_CR5","doi-asserted-by":"publisher","first-page":"2937","DOI":"10.1002\/ajmg.a.32092","volume":"143A","author":"L Bernardini","year":"2007","unstructured":"Bernardini L, Castori M, Capalbo A, Mokini V, Mingarelli R, Simi P, Bertuccelli A, Novelli A, Dallapiccola B: Syndromic craniosynostosis due to complex chromosome 5 rearrangement and MSX2 gene triplication. Am J Med Genet A. 2007, 143A: 2937-2943. 10.1002\/ajmg.a.32092.","journal-title":"Am J Med Genet A"},{"key":"159_CR6","doi-asserted-by":"publisher","first-page":"399","DOI":"10.1016\/S0022-3476(79)80514-4","volume":"95","author":"PA Duncan","year":"1979","unstructured":"Duncan PA, Shapiro LR, Stangel JJ, Klein RM, Addonizio JC: The MURCS association: Mullerian duct aplasia, renal aplasia, and cervicothoracic somite dysplasia. J Pediatr. 1979, 95: 399-402. 10.1016\/S0022-3476(79)80514-4.","journal-title":"J Pediatr"},{"key":"159_CR7","doi-asserted-by":"publisher","first-page":"597","DOI":"10.1016\/S0002-9378(98)70051-1","volume":"179","author":"BL van Lingen","year":"1998","unstructured":"van Lingen BL, Reindollar RH, Davis AJ, Gray MR: Further evidence that the WT1 gene does not have a role in the development of the derivatives of the mullerian duct. Am J Obstet Gynecol. 1998, 179: 597-603. 10.1016\/S0002-9378(98)70051-1.","journal-title":"Am J Obstet Gynecol"},{"key":"159_CR8","doi-asserted-by":"publisher","first-page":"4","DOI":"10.1186\/1477-5751-5-4","volume":"5","author":"A Burel","year":"2006","unstructured":"Burel A, Mouchel T, Odent S, Tiker F, Knebelmann B, Pellerin I, Guerrier D: Role of HOXA7 to HOXA13 and PBX1 genes in various forms of MRKH syndrome (congenital absence of uterus and vagina). J Negat Results Biomed. 2006, 5: 4-10.1186\/1477-5751-5-4.","journal-title":"J Negat Results Biomed"},{"key":"159_CR9","first-page":"290","volume":"87","author":"K Kucheria","year":"1988","unstructured":"Kucheria K, Taneja N, Kinra G: Autosomal translocation of chromosomes 12q & 14q in mullerian duct failure. Indian J Med Res. 1988, 87: 290-292.","journal-title":"Indian J Med Res"},{"key":"159_CR10","doi-asserted-by":"publisher","first-page":"423","DOI":"10.1136\/jmg.34.5.423","volume":"34","author":"K Devriendt","year":"1997","unstructured":"Devriendt K, Moerman P, Van Schoubroeck D, Vandenberghe K, Fryns JP: Chromosome 22q11 deletion presenting as the Potter sequence. J Med Genet. 1997, 34: 423-425. 10.1136\/jmg.34.5.423.","journal-title":"J Med Genet"},{"key":"159_CR11","doi-asserted-by":"publisher","first-page":"66","DOI":"10.1016\/j.ejmg.2006.09.003","volume":"50","author":"C Bendavid","year":"2007","unstructured":"Bendavid C, Pasquier L, Watrin T, Morcel K, Lucas J, Gicquel I, Dubourg C, Henry C, David V, Odent S, Leveque J, Pellerin I, Guerrier D: Phenotypic variability of a 4q34-->qter inherited deletion: MRKH syndrome in the daughter, cardiac defect and Fallopian tube cancer in the mother. Eur J Med Genet. 2007, 50: 66-72. 10.1016\/j.ejmg.2006.09.003.","journal-title":"Eur J Med Genet"},{"key":"159_CR12","doi-asserted-by":"publisher","first-page":"1339","DOI":"10.1002\/ajmg.a.31254","volume":"140","author":"C Cheroki","year":"2006","unstructured":"Cheroki C, Krepischi-Santos AC, Rosenberg C, Jehee FS, Mingroni-Netto RC, Pavanello Filho I, Zanforlin Filho S, Kim CA, Bagnoli VR, Mendonca BB, Szuhai K, Otto PA: Report of a del22q11 in a patient with Mayer-Rokitansky-Kuster-Hauser (MRKH) anomaly and exclusion of WNT-4, RAR-gamma, and RXR-alpha as major genes determining MRKH anomaly in a study of 25 affected women. Am J Med Genet A. 2006, 140: 1339-1342.","journal-title":"Am J Med Genet A"},{"key":"159_CR13","doi-asserted-by":"publisher","first-page":"228","DOI":"10.1136\/jmg.2007.051839","volume":"45","author":"C Cheroki","year":"2008","unstructured":"Cheroki C, Krepischi-Santos AC, Szuhai K, Brenner V, Kim CA, Otto PA, Rosenberg C: Genomic imbalances associated with mullerian aplasia. J Med Genet. 2008, 45: 228-232. 10.1136\/jmg.2007.051839.","journal-title":"J Med Genet"},{"key":"159_CR14","doi-asserted-by":"publisher","first-page":"1057","DOI":"10.1086\/522591","volume":"81","author":"HC Mefford","year":"2007","unstructured":"Mefford HC, Clauin S, Sharp AJ, Moller RS, Ullmann R, Kapur R, Pinkel D, Cooper GM, Ventura M, Ropers HH, Tommerup N, Eichler EE, Bellanne-Chantelot C: Recurrent reciprocal genomic rearrangements of 17q12 are associated with renal disease, diabetes, and epilepsy. Am J Hum Genet. 2007, 81: 1057-1069. 10.1086\/522591.","journal-title":"Am J Hum Genet"},{"key":"159_CR15","doi-asserted-by":"publisher","first-page":"384","DOI":"10.1038\/ng1297-384","volume":"17","author":"Y Horikawa","year":"1997","unstructured":"Horikawa Y, Iwasaki N, Hara M, Furuta H, Hinokio Y, Cockburn BN, Lindner T, Yamagata K, Ogata M, Tomonaga O, Kuroki H, Kasahara T, Iwamoto Y, Bell GI: Mutation in hepatocyte nuclear factor-1 beta gene (TCF2) associated with MODY. Nat Genet. 1997, 17: 384-385. 10.1038\/ng1297-384.","journal-title":"Nat Genet"},{"key":"159_CR16","doi-asserted-by":"publisher","first-page":"2001","DOI":"10.1093\/hmg\/8.11.2001","volume":"8","author":"TH Lindner","year":"1999","unstructured":"Lindner TH, Njolstad PR, Horikawa Y, Bostad L, Bell GI, Sovik O: A novel syndrome of diabetes mellitus, renal dysfunction and genital malformation associated with a partial deletion of the pseudo-POU domain of hepatocyte nuclear factor-1beta. Hum Mol Genet. 1999, 8: 2001-2008. 10.1093\/hmg\/8.11.2001.","journal-title":"Hum Mol Genet"},{"key":"159_CR17","doi-asserted-by":"publisher","first-page":"1243","DOI":"10.1046\/j.1523-1755.2002.00272.x","volume":"61","author":"C Bingham","year":"2002","unstructured":"Bingham C, Ellard S, Cole TR, Jones KE, Allen LI, Goodship JA, Goodship TH, Bakalinova-Pugh D, Russell GI, Woolf AS, Nicholls AJ, Hattersley AT: Solitary functioning kidney and diverse genital tract malformations associated with hepatocyte nuclear factor-1beta mutations. Kidney Int. 2002, 61: 1243-1251. 10.1046\/j.1523-1755.2002.00272.x.","journal-title":"Kidney Int"},{"key":"159_CR18","doi-asserted-by":"crossref","first-page":"2175","DOI":"10.1681\/ASN.V12102175","volume":"12","author":"M Kolatsi-Joannou","year":"2001","unstructured":"Kolatsi-Joannou M, Bingham C, Ellard S, Bulman MP, Allen LI, Hattersley AT, Woolf AS: Hepatocyte nuclear factor-1beta: a new kindred with renal cysts and diabetes and gene expression in normal human development. J Am Soc Nephrol. 2001, 12: 2175-2180.","journal-title":"J Am Soc Nephrol"},{"key":"159_CR19","doi-asserted-by":"publisher","first-page":"84","DOI":"10.1136\/jmg.2005.032854","volume":"43","author":"EL Edghill","year":"2006","unstructured":"Edghill EL, Bingham C, Ellard S, Hattersley AT: Mutations in hepatocyte nuclear factor-1beta and their related phenotypes. J Med Genet. 2006, 43: 84-90. 10.1136\/jmg.2005.032854.","journal-title":"J Med Genet"},{"key":"159_CR20","doi-asserted-by":"publisher","first-page":"67","DOI":"10.1007\/s11033-004-7657-z","volume":"32","author":"CS Hunter","year":"2005","unstructured":"Hunter CS, Rhodes SJ: LIM-homeodomain genes in mammalian development and human disease. Mol Biol Rep. 2005, 32: 67-77. 10.1007\/s11033-004-7657-z.","journal-title":"Mol Biol Rep"},{"key":"159_CR21","doi-asserted-by":"publisher","first-page":"2809","DOI":"10.1242\/dev.01858","volume":"132","author":"A Kobayashi","year":"2005","unstructured":"Kobayashi A, Kwan KM, Carroll TJ, McMahon AP, Mendelsohn CL, Behringer RR: Distinct and sequential tissue-specific activities of the LIM-class homeobox gene Lim1 for tubular morphogenesis during kidney development. Development. 2005, 132: 2809-2823. 10.1242\/dev.01858.","journal-title":"Development"}],"container-title":["Orphanet Journal of Rare Diseases"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1186\/1750-1172-4-25.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2021,9,1]],"date-time":"2021-09-01T07:53:29Z","timestamp":1630482809000},"score":1,"resource":{"primary":{"URL":"https:\/\/ojrd.biomedcentral.com\/articles\/10.1186\/1750-1172-4-25"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2009,11,4]]},"references-count":21,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2009,12]]}},"alternative-id":["159"],"URL":"https:\/\/doi.org\/10.1186\/1750-1172-4-25","relation":{},"ISSN":["1750-1172"],"issn-type":[{"value":"1750-1172","type":"electronic"}],"subject":[],"published":{"date-parts":[[2009,11,4]]},"assertion":[{"value":"22 July 2009","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"4 November 2009","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"4 November 2009","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}}],"article-number":"25"}}