{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,18]],"date-time":"2026-08-18T03:13:28Z","timestamp":1787022808451,"version":"build-2736575974"},"reference-count":24,"publisher":"Oxford University Press (OUP)","issue":"5","content-domain":{"domain":["eje.bioscientifica.com"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2011,11]]},"abstract":"<jats:sec>\n                    <jats:title>Objective<\/jats:title>\n                    <jats:p>\n                      Steroidogenic acute regulatory (STAR) protein plays a crucial role in steroidogenesis, and mutations in the\n                      <jats:italic>STAR<\/jats:italic>\n                      gene cause congenital lipoid adrenal hyperplasia (CLAH). This study investigated the\n                      <jats:italic>STAR<\/jats:italic>\n                      mutation spectrum and functionally analyzed a novel\n                      <jats:italic>STAR<\/jats:italic>\n                      mutation in Korean patients with CLAH.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>\n                      Mutation analysis of\n                      <jats:italic>STAR<\/jats:italic>\n                      was carried out in 25 unrelated Korean CLAH patients. A region of\n                      <jats:italic>STAR<\/jats:italic>\n                      comprising exons 4\u20137 was cloned from human genomic DNA into an expression vector, followed by site-directed mutagenesis and transient expression in COS7 cells. The splicing pattern was analyzed by\n                      <jats:italic>in vitro<\/jats:italic>\n                      transcription, and each transcript was functionally characterized by measuring pregnenolone production in COS7 cells cotransfected with the cholesterol side chain cleavage system.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      Mutation p.Q258X was identified in 46 of 50 alleles (92%); mutation c.653C&gt;T was detected in two alleles (4%); and mutations p.R182H and c.745\u20136_810del were found in one allele (2%). Reverse transcriptase-PCR products amplified from a patient heterozygous for compound c.653C&gt;T and c.745\u20136_810del mutation revealed multiple alternatively spliced mRNAs.\n                      <jats:italic>In vitro<\/jats:italic>\n                      expression analysis of a minigene consisting of exons 4\u20137 containing the c.653C&gt;T yielded two transcripts in which exon 6 or exons 5 and 6 were skipped. The encoded proteins exhibited defective pregnenolone-producing ability. The c.745\u20136_810del mutation led to full and partial intron retention.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>\n                      p.Q258X is the most common\n                      <jats:italic>STAR<\/jats:italic>\n                      mutation in Korea. A previously reported c.653C&gt;T variant was found to cause aberrant splicing at the mRNA level, resulting in perturbation of STAR function. The c.745\u20136_810del mutation also resulted in aberrant splicing.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1530\/eje-11-0597","type":"journal-article","created":{"date-parts":[[2011,8,16]],"date-time":"2011-08-16T20:20:08Z","timestamp":1313526008000},"page":"771-778","update-policy":"https:\/\/doi.org\/10.1530\/crossmarkpolicy-1","source":"Crossref","is-referenced-by-count":34,"title":["High allele frequency of the p.Q258X mutation and identification of a novel mis-splicing mutation in the STAR gene in Korean patients with congenital lipoid adrenal hyperplasia"],"prefix":"10.1093","volume":"165","author":[{"given":"Jae-Min","family":"Kim","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jin-Ho","family":"Choi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jung Hyun","family":"Lee","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gu-Hwan","family":"Kim","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Beom Hee","family":"Lee","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hae Soon","family":"Kim","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jeh-Hoon","family":"Shin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Choong-Ho","family":"Shin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chan Jong","family":"Kim","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jeesuk","family":"Yu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dae-Yeol","family":"Lee","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Won Kyoung","family":"Cho","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Byung-Kyu","family":"Suh","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ji Eun","family":"Lee","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hye Rim","family":"Chung","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Han-Wook","family":"Yoo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","reference":[{"issue":"5205","key":"1_15806663","doi-asserted-by":"publisher","first-page":"1828","DOI":"10.1126\/science.7892608","volume":"267","author":"Lin","year":"1995","journal-title":"Science","ISSN":"https:\/\/id.crossref.org\/issn\/0036-8075","issn-type":"print"},{"issue":"8","key":"2_11277685","doi-asserted-by":"publisher","first-page":"3820","DOI":"10.1210\/jc.86.8.3820","volume":"86","author":"Tajima","year":"2001","journal-title":"Journal of Clinical Endocrinology &amp; 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