{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,22]],"date-time":"2026-10-22T10:08:43Z","timestamp":1792663723750,"version":"4.5.0"},"reference-count":44,"publisher":"The Endocrine Society","issue":"7","license":[{"start":{"date-parts":[[2022,4,1]],"date-time":"2022-04-01T00:00:00Z","timestamp":1648771200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/academic.oup.com\/journals\/pages\/open_access\/funder_policies\/chorus\/standard_publication_model"}],"funder":[{"name":"Ratchadapiseksompotch Fund, Chulalongkorn University","award":["764002-HE01"],"award-info":[{"award-number":["764002-HE01"]}]},{"DOI":"10.13039\/501100004396","name":"Thailand Research Fund","doi-asserted-by":"publisher","award":["DPG6180001"],"award-info":[{"award-number":["DPG6180001"]}],"id":[{"id":"10.13039\/501100004396","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100010724","name":"Health Systems Research Institute","doi-asserted-by":"publisher","award":["64-132"],"award-info":[{"award-number":["64-132"]}],"id":[{"id":"10.13039\/501100010724","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2022,6,16]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:sec>\n                  <jats:title>Context<\/jats:title>\n                  <jats:p>Congenital adrenal hyperplasia is most commonly caused by 21-hydroxylase deficiency (21-OHD), an autosomal recessive disorder resulting from biallelic pathogenic variants (PVs) in CYP21A2. With a highly homologous pseudogene and various types of single nucleotide and complex structural variants, identification of PVs in CYP21A2 has been challenging.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Objective<\/jats:title>\n                  <jats:p>To leverage long-read next-generation sequencing combined with locus-specific polymerase chain reaction (PCR) to detect PVs in CYP21A2 and to determine its diagnostic yield in patients with 21-OHD.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Methods<\/jats:title>\n                  <jats:p>Forty-eight Thai patients with 21-OHD comprising 38 sporadic cases and 5 pairs of siblings were enrolled. Two previously described locus-specific PCR methods were performed. Amplicons were subject to long-read sequencing.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Results<\/jats:title>\n                  <jats:p>Ninety-six PVs in CYP21A2 in the 48 patients were successfully identified. The combined techniques were able to detect 26 structural chimeric variants (27%; 26\/96) in 22 patients with 18 having monoallelic and 4 having biallelic chimeras. The remaining PVs were pseudogene-derived mutations (63%; 60\/96), entire gene deletions (2%; 2\/96), missense variants (3%; 3\/96), a splice-site variant (2%; 2\/96), frameshift variants (2%; 2\/96), and a nonsense variant (1%; 1\/96). Notably, a splice-site variant, IVS7\u2005+\u20051G\u2005&amp;gt;\u2005T, which was identified in a pair of siblings, has not previously been reported.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Conclusions<\/jats:title>\n                  <jats:p>Our approach exploiting locus-specific PCR and long-read DNA sequencing has a 100% diagnostic yield for our cohort of 48 patients with 21-OHD.<\/jats:p>\n               <\/jats:sec>","DOI":"10.1210\/clinem\/dgac187","type":"journal-article","created":{"date-parts":[[2022,4,1]],"date-time":"2022-04-01T14:21:00Z","timestamp":1648822860000},"page":"1939-1947","source":"Crossref","is-referenced-by-count":15,"title":["Long-read Amplicon Sequencing of the <i>CYP21A2<\/i> in 48 Thai Patients With Steroid 21-Hydroxylase Deficiency"],"prefix":"10.1210","volume":"107","author":[{"given":"Nithiphut","family":"Tantirukdham","sequence":"first","affiliation":[{"name":"Genetics Program, Division of Human 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