{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,26]],"date-time":"2025-10-26T21:36:59Z","timestamp":1761514619214,"version":"3.37.3"},"reference-count":10,"publisher":"Walter de Gruyter GmbH","issue":"9","funder":[{"name":"Shanghai Shen Kang Hospital Development Center new frontier technology joint project","award":["No.SHDC12017109, to YGY"],"award-info":[{"award-number":["No.SHDC12017109, to YGY"]}]},{"DOI":"10.13039\/501100012166","name":"National Key R&D Program of China","doi-asserted-by":"crossref","award":["2018YFC1002204"],"award-info":[{"award-number":["2018YFC1002204"]}],"id":[{"id":"10.13039\/501100012166","id-type":"DOI","asserted-by":"crossref"}]},{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"crossref","award":["8187373, 81670812, 81873671"],"award-info":[{"award-number":["8187373, 81670812, 81873671"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"crossref"}]},{"name":"Jiaotong University Cross Biomedical Engineering","award":["YG2017MS72"],"award-info":[{"award-number":["YG2017MS72"]}]},{"name":"Shanghai Municipal Commission of Health and Family Planning","award":["201740192"],"award-info":[{"award-number":["201740192"]}]},{"DOI":"10.13039\/501100010167","name":"Shanghai Shen Kang Hospital Development Center","doi-asserted-by":"crossref","award":["SHDC12017109"],"award-info":[{"award-number":["SHDC12017109"]}],"id":[{"id":"10.13039\/501100010167","id-type":"DOI","asserted-by":"crossref"}]},{"DOI":"10.13039\/501100003399","name":"Shanghai Science and Technology Commission","doi-asserted-by":"crossref","award":["19140904500"],"award-info":[{"award-number":["19140904500"]}],"id":[{"id":"10.13039\/501100003399","id-type":"DOI","asserted-by":"crossref"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2020,9,25]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:sec id=\"j_jpem-2020-0058_abs_001_w2aab3b7c17b1b6b1aab1c17b1Aa\">\n                  <jats:title>Objectives<\/jats:title>\n                  <jats:p>Congenital adrenal hyperplasia (CAH) is an autosomal recessive inherited disorder of steroidogenesis.11\u03b2-hydroxylase deficiency and 17\u03b1-hydroxylase deficiency are two forms of CAH caused by defects of <jats:italic>CYP11B1<\/jats:italic> and <jats:italic>CYP17A1<\/jats:italic> respectively.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec id=\"j_jpem-2020-0058_abs_002_w2aab3b7c17b1b6b1aab1c17b2Aa\">\n                  <jats:title>Case presentation<\/jats:title>\n                  <jats:p>Two rare intronic variants were identified in suspected CAH patients. Though not located at the classic splicing sites, these two variants perturbed splicing based on minigene assays. One variant, NM_000497.4: c.240-157T&gt;G of <jats:italic>CYP11B1<\/jats:italic> identified in subject 1, resulted in the retention of 136 intronic nucleotides. The other variant, NM_000102.4: c.754-6 A&gt;G of <jats:italic>CYP17A1<\/jats:italic> identified in subject 2, leading to the retention of 5 intronic nucleotides. Both variants resulted in out-of-frame alteration of the respective transcript.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec id=\"j_jpem-2020-0058_abs_003_w2aab3b7c17b1b6b1aab1c17b3Aa\">\n                  <jats:title>Conclusion<\/jats:title>\n                  <jats:p>Cryptic splicing variants in the intronic regions contribute to the genetic defects of CAH. Minigene assay is useful to confirm the splice altering effect and make a definitive molecular diagnosis.<\/jats:p>\n               <\/jats:sec>","DOI":"10.1515\/jpem-2020-0058","type":"journal-article","created":{"date-parts":[[2020,7,22]],"date-time":"2020-07-22T13:31:23Z","timestamp":1595424683000},"page":"1225-1229","source":"Crossref","is-referenced-by-count":6,"title":["Two intronic variants of <i>CYP11B1<\/i> and <i>CYP17A1<\/i> disrupt mRNA splicing and cause congenital adrenal hyperplasia (CAH)"],"prefix":"10.1515","volume":"33","author":[{"given":"Weiqian","family":"Dai","sequence":"first","affiliation":[{"name":"Department of Pediatric Endocrinology and Genetic Metabolism, Shanghai Institute for Pediatric Research , Xinhua Hospital, School of Medicine, Shanghai Jiao Tong University , Shanghai , China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xia","family":"Zhang","sequence":"additional","affiliation":[{"name":"Department of Pediatric Endocrinology and Genetic Metabolism, Shanghai Institute for Pediatric Research , Xinhua Hospital, School of Medicine, Shanghai Jiao Tong University , Shanghai , China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Huili","family":"Liu","sequence":"additional","affiliation":[{"name":"Department of Pediatric Endocrinology and Genetic Metabolism, Shanghai Institute for Pediatric Research , Xinhua Hospital, School of Medicine, Shanghai Jiao Tong University , Shanghai , China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yu","family":"Sun","sequence":"additional","affiliation":[{"name":"Department of Pediatric Endocrinology and Genetic Metabolism, Shanghai Institute for Pediatric Research , Xinhua Hospital, School of Medicine, Shanghai Jiao Tong University , Shanghai , China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yanjie","family":"Fan","sequence":"additional","affiliation":[{"name":"Department of Pediatric Endocrinology and Genetic Metabolism, Shanghai Institute for Pediatric Research , Xinhua Hospital, School of Medicine, Shanghai Jiao Tong University , Shanghai , China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4472-0910","authenticated-orcid":false,"given":"Yongguo","family":"Yu","sequence":"additional","affiliation":[{"name":"Department of Pediatric Endocrinology and Genetic Metabolism, Shanghai Institute for Pediatric Research , Xinhua Hospital, School of Medicine, Shanghai Jiao Tong University , Shanghai , China"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"374","published-online":{"date-parts":[[2020,7,20]]},"reference":[{"key":"2023041309511212721_j_jpem-2020-0058_ref_001_w2aab3b7c17b1b6b1ab2b2b1Aa","doi-asserted-by":"crossref","unstructured":"El-Maouche, D, Arlt, W, Merke, DP. 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