{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,20]],"date-time":"2026-05-20T03:29:47Z","timestamp":1779247787209,"version":"3.51.4"},"reference-count":32,"publisher":"Wiley","issue":"8","license":[{"start":{"date-parts":[[2014,4,15]],"date-time":"2014-04-15T00:00:00Z","timestamp":1397520000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2014,8]]},"abstract":"<jats:sec><jats:label\/><jats:p>Genomic duplications of varying lengths at Xq26\u2013q27 involving <jats:italic>SOX3<\/jats:italic> have been described in families with X\u2010linked hypopituitarism. Using array\u2010CGH we detected a 1.1\u2009Mb microduplication at Xq27 in a large family with three males suffering from X\u2010linked hypopituitarism. The duplication was mapped from 138.7 to 139.8\u2009Mb, harboring only two annotated genes, <jats:italic>SOX3<\/jats:italic> and <jats:italic>ATP11C<\/jats:italic>, and was shown to be a direct tandem copy number gain. Unexpectedly, the microduplication did not fully segregate with the disease in this family suggesting that <jats:italic>SOX3<\/jats:italic> duplications have variable penetrance for X\u2010linked hypopituitarism. In the same family, a female fetus presenting with a neural tube defect was also shown to carry the <jats:italic>SOX3<\/jats:italic> copy number gain. Since we also demonstrated increased <jats:italic>SOX3<\/jats:italic> mRNA levels in amnion cells derived from an unrelated t(X;22)(q27;q11) female fetus with spina bifida, we propose that increased levels of <jats:italic>SOX3<\/jats:italic> could be a risk factor for neural tube defects. \u00a9 2014 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.36580","type":"journal-article","created":{"date-parts":[[2014,4,15]],"date-time":"2014-04-15T16:42:50Z","timestamp":1397580170000},"page":"1947-1952","source":"Crossref","is-referenced-by-count":32,"title":["Evidence for increased <i>SOX3<\/i> dosage as a risk factor for X\u2010linked hypopituitarism and neural tube defects"],"prefix":"10.1002","volume":"164","author":[{"given":"Marijke","family":"Bauters","sequence":"first","affiliation":[{"name":"Human Genome Laboratory Department of Human Genetics KU Leuven Leuven Belgium"},{"name":"Human Genome Laboratory VIB Center for the Biology of Disease Leuven Belgium"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Suzanna G.","family":"Frints","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics Maastricht University Medical Centre (MUMC) Maastricht The Netherlands"},{"name":"GROW, Research School for Oncology and Developmental Biology Faculty of Health Medicine and Life Sciences Maastricht University Maastricht The Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hilde","family":"Van Esch","sequence":"additional","affiliation":[{"name":"Department of Human Genetics University Hospitals Leuven KU Leuven Leuven Belgium"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Liesbeth","family":"Spruijt","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics Maastricht University Medical Centre (MUMC) Maastricht The Netherlands"},{"name":"Radboud University Nijmegen Medical Centre Nijmegen The Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marcella M.","family":"Baldewijns","sequence":"additional","affiliation":[{"name":"GROW, Research School for Oncology and Developmental Biology Faculty of Health Medicine and Life Sciences Maastricht University Maastricht The Netherlands"},{"name":"Department of Pathology Maastricht University Medical Centre (MUMC) Maastricht The Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Christine E. M. de","family":"Die\u2010Smulders","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics Maastricht University Medical Centre (MUMC) Maastricht The Netherlands"},{"name":"GROW, Research School for Oncology and Developmental Biology Faculty of Health Medicine and Life Sciences Maastricht University Maastricht The Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jean\u2010Pierre","family":"Fryns","sequence":"additional","affiliation":[{"name":"Department of Human Genetics University Hospitals Leuven KU Leuven Leuven Belgium"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Peter","family":"Marynen","sequence":"additional","affiliation":[{"name":"Human Genome Laboratory Department of Human Genetics KU Leuven Leuven Belgium"},{"name":"Human Genome Laboratory VIB Center for the Biology of Disease Leuven Belgium"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Guy","family":"Froyen","sequence":"additional","affiliation":[{"name":"Human Genome Laboratory Department of Human Genetics KU Leuven Leuven Belgium"},{"name":"Human Genome Laboratory VIB Center for the Biology of Disease Leuven Belgium"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2014,4,15]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1007\/s12098-011-0614-7"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2010-1239"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320170132"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2005.04.008"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1097\/MCD.0b013e32832d06f0"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.1038\/nn1131"},{"key":"e_1_2_7_8_1","doi-asserted-by":"publisher","DOI":"10.1242\/dev.122.2.509"},{"key":"e_1_2_7_9_1","doi-asserted-by":"publisher","DOI":"10.1146\/annurev.neuro.24.1.327"},{"key":"e_1_2_7_10_1","doi-asserted-by":"publisher","DOI":"10.1034\/j.1399-0004.2002.620510.x"},{"key":"e_1_2_7_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ydbio.2008.05.542"},{"key":"e_1_2_7_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.20564"},{"key":"e_1_2_7_13_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2012.06.010"},{"key":"e_1_2_7_14_1","first-page":"159","article-title":"Lumbosacral spina bifida and myeloschizis in a female foetus with de novo X\/autosomal translocation (t(X;22)(q27;q121))","volume":"7","author":"Fryns JP","year":"1996","journal-title":"Genet Couns"},{"key":"e_1_2_7_15_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19960712)64:1<35::AID-AJMG5>3.0.CO;2-Q"},{"key":"e_1_2_7_16_1","doi-asserted-by":"publisher","DOI":"10.1006\/geno.2000.6327"},{"key":"e_1_2_7_17_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.25.4.227"},{"key":"e_1_2_7_18_1","doi-asserted-by":"publisher","DOI":"10.1159\/000110610"},{"key":"e_1_2_7_19_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-004-1175-x"},{"key":"e_1_2_7_20_1","first-page":"910","article-title":"X\u2010linked recessive panhypopituitarism associated with a regional duplication in Xq25\u2010q26","volume":"60","author":"Lagerstr\u00f6m\u2010Ferm\u00e9r M","year":"1997","journal-title":"Am J Hum Genet"},{"key":"e_1_2_7_21_1","doi-asserted-by":"publisher","DOI":"10.1086\/344661"},{"key":"e_1_2_7_22_1","doi-asserted-by":"publisher","DOI":"10.1242\/dev.129.18.4219"},{"key":"e_1_2_7_23_1","first-page":"24","article-title":"X\u2010linked recessive hypopituitarism","volume":"7","author":"Phelan PD","year":"1971","journal-title":"Birth Defects Orig Artic Ser"},{"key":"e_1_2_7_24_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1309"},{"key":"e_1_2_7_25_1","doi-asserted-by":"publisher","DOI":"10.1089\/gte.2006.0510"},{"key":"e_1_2_7_26_1","doi-asserted-by":"publisher","DOI":"10.1006\/geno.2002.6741"},{"key":"e_1_2_7_27_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2003.016949"},{"key":"e_1_2_7_28_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.30910"},{"key":"e_1_2_7_29_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320060205"},{"key":"e_1_2_7_30_1","doi-asserted-by":"publisher","DOI":"10.1016\/0925-4773(94)00299-3"},{"key":"e_1_2_7_31_1","doi-asserted-by":"publisher","DOI":"10.1086\/444549"},{"key":"e_1_2_7_32_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0925-4773(99)00116-1"},{"key":"e_1_2_7_33_1","doi-asserted-by":"publisher","DOI":"10.1086\/430134"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.a.36580","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.36580","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,6]],"date-time":"2023-10-06T05:30:38Z","timestamp":1696570238000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.36580"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2014,4,15]]},"references-count":32,"journal-issue":{"issue":"8","published-print":{"date-parts":[[2014,8]]}},"alternative-id":["10.1002\/ajmg.a.36580"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.36580","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2014,4,15]]}}}