{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,25]],"date-time":"2026-08-25T07:21:24Z","timestamp":1787642484602,"version":"build-2736575974"},"reference-count":24,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2026,8,24]],"date-time":"2026-08-24T00:00:00Z","timestamp":1787529600000},"content-version":"vor","delay-in-days":235,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2026,1,1]],"date-time":"2026-01-01T00:00:00Z","timestamp":1767225600000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Case Reports in Medicine"],"published-print":{"date-parts":[[2026,1]]},"abstract":"<jats:sec>\n                    <jats:title>Introduction<\/jats:title>\n                    <jats:p>This study retrospectively analyzed the clinical data of a female child with primary ciliary dyskinesia (PCD) caused by variants in the CFTR (NM_000492.3) and SFTPC (NM_003018.3). All variant descriptions in this report follow the HGVS standardized nomenclature guidelines. These two variants are considered to be potentially associated with pediatric PCD.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Case Presentation<\/jats:title>\n                    <jats:p>A 13\u2010year\u2010old Chinese female patient with a history of recurrent respiratory infections was admitted due to intermittent cough and sputum production for one month, exacerbated by fever for five days. Chest CT revealed a lung infection and bronchiectasis. Transmission electron microscopy of ciliary biopsy identified structural abnormalities in bronchial mucosa cilia, including aberrant microtubule arrangements (8\u2009+\u20092, 9\u2009+\u20091, and 7\u2009+\u20092 patterns), and disorganized peripheral microtubules. The whole\u2010exome sequencing (WES) identified a heterozygous variant c.374T\u2009&gt;\u2009C (p.Ile125Thr) in CFTR (NM_000492.3) and a heterozygous variant c.115G\u2009&gt;\u2009T (p.Val39Leu) in SFTPC (NM_003018.3), with all nomenclature complying with HGVS recommendations. A comprehensive diagnosis of PCD was confirmed. The patient improved after anti\u2010infective and symptomatic therapy and was discharged.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>Variants in the CFTR and SFTPC genes may be associated with PCD in children. This case highlights the importance of early genetic variant testing and ciliary ultrastructural analysis (e.g., transmission electron microscopy) in children with recurrent respiratory tract infections, bronchiectasis, or chronic sinusitis, thereby facilitating timely diagnosis and clinical intervention.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1155\/carm\/2903077","type":"journal-article","created":{"date-parts":[[2026,8,25]],"date-time":"2026-08-25T06:56:20Z","timestamp":1787640980000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["A Case of Primary Ciliary Dyskinesia Caused by\n                    <i>CFTR<\/i>\n                    Gene and\n                    <i>SFTPC<\/i>\n                    Gene Variants"],"prefix":"10.1155","volume":"2026","author":[{"given":"Xinhui","family":"Yuan","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0005-8241-8535","authenticated-orcid":false,"given":"Dan","family":"Shao","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yumei","family":"Li","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jizu","family":"Ling","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yigu","family":"Gong","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2026,8,24]]},"reference":[{"key":"e_1_2_13_1_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.lpm.2023.104171"},{"key":"e_1_2_13_2_2","doi-asserted-by":"publisher","DOI":"10.3390\/ijms22158272"},{"key":"e_1_2_13_3_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0070-2153(08)00806-5"},{"key":"e_1_2_13_4_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.chest.2018.05.007"},{"key":"e_1_2_13_5_2","first-page":"94","article-title":"Expert Consensus on Diagnosis and Treatment of Primary Ciliary Dyskinesia in Children","volume":"33","author":"Collaborative Group on Difficult and Rare Diseases of the Respiratory Science Branch of the Chinese Medical Association","year":"2018","journal-title":"Chinese Journal of Practical Pediatrics"},{"key":"e_1_2_13_6_2","doi-asserted-by":"publisher","DOI":"10.1513\/annalsats.202007-816oc"},{"key":"e_1_2_13_7_2","doi-asserted-by":"publisher","DOI":"10.1183\/13993003.00314-2017"},{"key":"e_1_2_13_8_2","doi-asserted-by":"publisher","DOI":"10.3389\/fgene.2022.1017280"},{"key":"e_1_2_13_9_2","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.0611405104"},{"key":"e_1_2_13_10_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2014.08.005"},{"key":"e_1_2_13_11_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2016.06.014"},{"key":"e_1_2_13_12_2","doi-asserted-by":"publisher","DOI":"10.1007\/s10815-019-01509-7"},{"key":"e_1_2_13_13_2","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pgen.1009306"},{"key":"e_1_2_13_14_2","doi-asserted-by":"publisher","DOI":"10.1172\/jci.insight.168836"},{"key":"e_1_2_13_15_2","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gki025"},{"key":"e_1_2_13_16_2","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gkx1153"},{"key":"e_1_2_13_17_2","doi-asserted-by":"publisher","DOI":"10.1038\/s41586-020-2308-7"},{"key":"e_1_2_13_18_2","first-page":"5","article-title":"LOVD: Easy Creation of Locus-specific Mutation Databases and Variation Curation","volume":"42","author":"Fokkema I. F. A. C.","year":"2021","journal-title":"Human Mutation"},{"key":"e_1_2_13_19_2","first-page":"157","article-title":"One Case of Cystic Fibrosis","volume":"30","author":"Zhu X. H.","year":"2025","journal-title":"Journal of Clinical Pulmonary Medicine"},{"key":"e_1_2_13_20_2","doi-asserted-by":"publisher","DOI":"10.1165\/rcmb.2022-0203ma"},{"key":"e_1_2_13_21_2","doi-asserted-by":"publisher","DOI":"10.1183\/09031936.00088614"},{"key":"e_1_2_13_22_2","doi-asserted-by":"publisher","DOI":"10.1164\/rccm.201805-0819st"},{"key":"e_1_2_13_23_2","doi-asserted-by":"publisher","DOI":"10.1513\/annalsats.201305-110oc"},{"key":"e_1_2_13_24_2","doi-asserted-by":"publisher","DOI":"10.1183\/09031936.00176111"}],"container-title":["Case Reports in Medicine"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1155\/carm\/2903077","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1155\/carm\/2903077","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1155\/carm\/2903077","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,8,25]],"date-time":"2026-08-25T06:56:22Z","timestamp":1787640982000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1155\/carm\/2903077"}},"subtitle":[],"editor":[{"given":"Massimo","family":"Conese","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"editor"}]}],"short-title":[],"issued":{"date-parts":[[2026,1]]},"references-count":24,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2026,1]]}},"alternative-id":["10.1155\/carm\/2903077"],"URL":"https:\/\/doi.org\/10.1155\/carm\/2903077","archive":["Portico"],"relation":{},"ISSN":["1687-9627","1687-9635"],"issn-type":[{"value":"1687-9627","type":"print"},{"value":"1687-9635","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,1]]},"assertion":[{"value":"2025-12-27","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2026-07-28","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2026-08-24","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}],"article-number":"2903077"}}