{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,7]],"date-time":"2026-10-07T04:09:54Z","timestamp":1791346194188,"version":"4.3.1"},"reference-count":61,"publisher":"The Endocrine Society","issue":"3","license":[{"start":{"date-parts":[[2021,10,11]],"date-time":"2021-10-11T00:00:00Z","timestamp":1633910400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/academic.oup.com\/journals\/pages\/open_access\/funder_policies\/chorus\/standard_publication_model"}],"funder":[{"DOI":"10.13039\/501100004919","name":"KACST","doi-asserted-by":"publisher","award":["AT-32-44"],"award-info":[{"award-number":["AT-32-44"]}],"id":[{"id":"10.13039\/501100004919","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2022,2,17]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:sec>\n                  <jats:title>Context<\/jats:title>\n                  <jats:p>Congenital hypothyroidism (CH) is caused by mutations in the genes for thyroid hormone synthesis. In our previous investigation of CH patients, approximately 53% of patients had mutations in either coding exons or canonical splice sites of causative genes. Noncanonical splice-site variants in the intron were detected but their pathogenic significance was not known.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Objective<\/jats:title>\n                  <jats:p>This work aims to evaluate noncanonical splice-site variants on pre\u2013messenger RNA (pre-mRNA) splicing of CH-causing genes.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Methods<\/jats:title>\n                  <jats:p>Next-generation sequencing data of 55 CH cases in 47 families were analyzed to identify rare intron variants. The effects of variants on pre-mRNA splicing were investigated by minigene RNA-splicing assay.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Results<\/jats:title>\n                  <jats:p>Four intron variants were found in 3 patients: solute carrier family 26 member 4 (SLC26A4) c.1544+9C&amp;gt;T and c.1707+94C&amp;gt;T in one patient, and solute carrier family 5 member 5 (SLC5A5) c.970-48G&amp;gt;C and c.1652-97A&amp;gt;C in 2 other patients. The c.1707+94C&amp;gt;T and c.970-48G&amp;gt;C caused exons 15 and 16 skipping, and exon 8 skipping, respectively. The remaining variants had no effect on RNA splicing. Furthermore, we analyzed 28 previously reported noncanonical splice-site variants (4 in TG and 24 in SLC26A4). Among them, 15 variants (~\u200554%) resulted in aberrant splicing and 13 variants had no effect on RNA splicing. These data were compared with 3 variant-prediction programs (FATHMM-XF, FATHMM-MKL, and CADD). Among 32 variants, FATHMM-XF, FATHMM-MKL, and CADD correctly predicted 20 (63%), 17 (53%), and 26 (81%) variants, respectively.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Conclusion<\/jats:title>\n                  <jats:p>Two novel deep intron mutations have been identified in SLC26A4 and SLC5A5, bringing the total number of solved families with disease-causing mutations to approximately 45% in our cohort. Approximately 46% (13\/28) of reported noncanonical splice-site mutations do not disrupt pre-mRNA splicing. CADD provides highest prediction accuracy of noncanonical splice-site variants.<\/jats:p>\n               <\/jats:sec>","DOI":"10.1210\/clinem\/dgab737","type":"journal-article","created":{"date-parts":[[2021,10,11]],"date-time":"2021-10-11T08:30:05Z","timestamp":1633941005000},"page":"e1263-e1276","source":"Crossref","is-referenced-by-count":6,"title":["Insights of Noncanonical Splice-site Variants on RNA Splicing in Patients With Congenital Hypothyroidism"],"prefix":"10.1210","volume":"107","author":[{"given":"Najla","family":"Albader","sequence":"first","affiliation":[{"name":"Department of Biochemistry, College of Science, King Saud University, Riyadh 11495, Saudi Arabia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Minjing","family":"Zou","sequence":"additional","affiliation":[{"name":"Centre for Genomic Medicine, King Faisal Specialist Hospital and Research Centre, Riyadh 11211, Saudi Arabia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Huda 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