{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,14]],"date-time":"2026-09-14T17:54:08Z","timestamp":1789408448086,"version":"build-2803163510"},"reference-count":49,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2004,5,12]],"date-time":"2004-05-12T00:00:00Z","timestamp":1084320000000},"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":[[2004,8]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    Antley\u2013Bixler syndrome (ABS) is characterized by skeletal defects including craniosynostosis and radiohumeral synostosis. Although mutations in the\n                    <jats:italic>FGFR2<\/jats:italic>\n                    gene have been found in some patients called ABS, genetic heterogeneity of this syndrome has been proposed. We have previously reported three ABS patients with unique abnormalities in steroidogenesis (apparent decreased activity of 17\u03b1\u2010hydroxylase, 17,20\u2010lyase, and 21\u2010hydroxylase). Decreased activity of lanosterol 14\u03b1\u2010demethylase has also been described in an ABS patient. Since all these enzymes require cytochrome P450 oxidoreductase (encoded by\n                    <jats:italic>POR<\/jats:italic>\n                    ) as an electron donor, we studied\n                    <jats:italic>POR<\/jats:italic>\n                    in two unrelated ABS patients with abnormal steroidogenesis. Direct sequencing of\n                    <jats:italic>POR<\/jats:italic>\n                    revealed that both patients had compound heterozygous mutations (1329insC and R454H in a male patient, 1698insC and R454H in a female patient). The two insertional mutations were assumed to generate truncated and unstable mRNAs. The R454H mutation was assumed to be deleterious because the R454 resides in the FAD\u2010binding domain and is highly conserved among diverse species. Our results demonstrate that mutations in\n                    <jats:italic>POR<\/jats:italic>\n                    cause the ABS phenotype with autosomal recessive inheritance and with characteristic abnormalities in steroidogenesis. \u00a9 2004 Wiley\u2010Liss, Inc.\n                  <\/jats:p>","DOI":"10.1002\/ajmg.a.30169","type":"journal-article","created":{"date-parts":[[2004,5,12]],"date-time":"2004-05-12T13:00:45Z","timestamp":1084366845000},"page":"333-339","source":"Crossref","is-referenced-by-count":94,"title":["Compound heterozygous mutations of cytochrome P450 oxidoreductase gene (\n                    <i>POR<\/i>\n                    ) in two patients with Antley\u2013Bixler syndrome"],"prefix":"10.1002","volume":"128A","author":[{"given":"Masanori","family":"Adachi","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Katsuhiko","family":"Tachibana","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yumi","family":"Asakura","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Toshiyuki","family":"Yamamoto","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Keiichi","family":"Hanaki","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Akira","family":"Oka","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2004,5,12]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1442-200x.2004.01960.x"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19971031)72:3<253::AID-AJMG1>3.0.CO;2-S"},{"key":"e_1_2_6_4_1","first-page":"397","article-title":"Trapezoidocephaly, midfacial hypoplasia, and cartilage abnormalities with multiple synostoses and skeletal fractures","volume":"11","author":"Antley R","year":"1975","journal-title":"Birth Defects Orig Artic Ser"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.273.6.3158"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/0003-9861(72)90016-1"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1007\/s003810050082"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1097\/01.PRS.0000049452.18798.63"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0960-0760(03)00359-5"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/0303-7207(76)90010-1"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19980518)77:3<219::AID-AJMG6>3.0.CO;2-K"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1995.tb03922.x"},{"key":"e_1_2_6_13_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19980724)78:4<356::AID-AJMG10>3.0.CO;2-H"},{"key":"e_1_2_6_14_1","doi-asserted-by":"publisher","DOI":"10.1021\/bi00096a010"},{"key":"e_1_2_6_15_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/30.1.158"},{"key":"e_1_2_6_16_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.10510"},{"key":"e_1_2_6_17_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0021-9258(18)61364-X"},{"key":"e_1_2_6_18_1","doi-asserted-by":"crossref","first-page":"3386","DOI":"10.1016\/S0021-9258(19)85711-3","article-title":"Studies on the steroid hydroxylation system in adrenal cortex microsomes. 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