{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,14]],"date-time":"2026-10-14T02:18:48Z","timestamp":1791944328029,"version":"4.3.4"},"reference-count":37,"publisher":"The Endocrine Society","issue":"2","license":[{"start":{"date-parts":[[2024,7,25]],"date-time":"2024-07-25T00:00:00Z","timestamp":1721865600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/academic.oup.com\/pages\/standard-publication-reuse-rights"}],"funder":[{"DOI":"10.13039\/501100012166","name":"National Key Research and Development Program of China","doi-asserted-by":"publisher","award":["2022YFC2703400"],"award-info":[{"award-number":["2022YFC2703400"]}],"id":[{"id":"10.13039\/501100012166","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["82271904"],"award-info":[{"award-number":["82271904"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["82070914"],"award-info":[{"award-number":["82070914"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["82100953"],"award-info":[{"award-number":["82100953"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]},{"name":"Shanghai Municipal Health Commission Project","award":["202340103"],"award-info":[{"award-number":["202340103"]}]},{"name":"Shanghai Municipal Health Commission Project","award":["20234Y0097"],"award-info":[{"award-number":["20234Y0097"]}]},{"name":"Clinical Research Centre for Congenital Adrenal Insufficiency"},{"name":"School of Pediatrics"},{"DOI":"10.13039\/501100004921","name":"Shanghai Jiao Tong University School of Medicine","doi-asserted-by":"publisher","award":["ELYZX202106"],"award-info":[{"award-number":["ELYZX202106"]}],"id":[{"id":"10.13039\/501100004921","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100004921","name":"Shanghai Jiao Tong University School of Medicine","doi-asserted-by":"publisher","award":["23XHCR12B"],"award-info":[{"award-number":["23XHCR12B"]}],"id":[{"id":"10.13039\/501100004921","id-type":"DOI","asserted-by":"publisher"}]},{"name":"Clinical Innovation Project of Xinhua Hospital"},{"DOI":"10.13039\/100008235","name":"School of Medicine","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100008235","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2025,1,21]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:sec>\n                  <jats:title>Context<\/jats:title>\n                  <jats:p>Genetic testing for 21-hydroxylase deficiency (21-OHD) is always challenging. The current approaches of short-read sequencing and multiplex ligation-dependent probe amplification (MLPA) are insufficient for the detection of chimeric genes or complicated variants from multiple copies. Recently developed long-read sequencing (LRS) can solve this problem.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Objective<\/jats:title>\n                  <jats:p>To investigate the clinical utility of LRS in precision diagnosis of 21-OHD.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Methods<\/jats:title>\n                  <jats:p>In the cohort of 832 patients with 21-OHD, the current approaches provided the precise molecular diagnosis for 81.7% (680\/832) of cases. LRS was performed to solve the remaining 144 cases with complex chimeric variants and 8 cases with variants from multiple copies. Clinical manifestations in patients with continuous deletions of CYP21A2 extending to TNXB (namely CAH-X) were further evaluated.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Results<\/jats:title>\n                  <jats:p>Using LRS in combination with previous genetic test results, a total of 16.9% (281\/1664) CYP21A1P\/CYP21A2 or TNXA\/TNXB chimeric alleles were identified in 832 patients, with CYP21A1P\/CYP21A2 accounting for 10.4% and TNXA\/TNXB for 6.5%. The top 3 common chimeras were CYP21 CH-1, TNX CH-1, and TNX CH-2, accounting for 77.2% (217\/281) of all chimeric alleles. The 8 patients with variants on multiple copies of CYP21A2 were accurately identified with LRS. The prevalence of CAH-X in our cohort was 12.1%, and a high frequency of connective tissue-related symptoms was observed in CAH-X patients.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Conclusion<\/jats:title>\n                  <jats:p>LRS can detect all types of CYP21A2 variants, including complex chimeras and pathogenic variants on multiple copies in patients with 21-OHD, which could be utilized as a first-tier routine test for the precision diagnosis and categorization of congenital adrenal hyperplasia.<\/jats:p>\n               <\/jats:sec>","DOI":"10.1210\/clinem\/dgae519","type":"journal-article","created":{"date-parts":[[2024,7,25]],"date-time":"2024-07-25T09:52:19Z","timestamp":1721901139000},"page":"406-416","source":"Crossref","is-referenced-by-count":15,"title":["Long-Read Sequencing Solves Complex Structure of <i>CYP21A2<\/i> in a Large 21-Hydroxylase Deficiency 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