{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,30]],"date-time":"2026-09-30T11:49:01Z","timestamp":1790768941111,"version":"4.1.0"},"reference-count":61,"publisher":"MDPI AG","issue":"3","license":[{"start":{"date-parts":[[2023,1,18]],"date-time":"2023-01-18T00:00:00Z","timestamp":1674000000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/100000002","name":"NIH National Institute of Minority Health and Health Disparities","doi-asserted-by":"publisher","award":["S21MD001830"],"award-info":[{"award-number":["S21MD001830"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000002","name":"NIH National Institute of Minority Health and Health Disparities","doi-asserted-by":"publisher","award":["R25MD007607"],"award-info":[{"award-number":["R25MD007607"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100006545","name":"National Institute on Minority Health and Health Disparities","doi-asserted-by":"publisher","award":["S21MD001830"],"award-info":[{"award-number":["S21MD001830"]}],"id":[{"id":"10.13039\/100006545","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100006545","name":"National Institute on Minority Health and Health Disparities","doi-asserted-by":"publisher","award":["R25MD007607"],"award-info":[{"award-number":["R25MD007607"]}],"id":[{"id":"10.13039\/100006545","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["IJMS"],"abstract":"<jats:p>The radial spoke head protein 4 homolog A (RSPH4A) gene is one of more than 50 genes that cause Primary ciliary dyskinesia (PCD), a rare genetic ciliopathy. Genetic mutations in the RSPH4A gene alter an important protein structure involved in ciliary pathogenesis. Radial spoke proteins, such as RSPH4A, have been conserved across multiple species. In humans, ciliary function deficiency caused by RSPH4A pathogenic variants results in a clinical phenotype characterized by recurrent oto-sino-pulmonary infections. More than 30 pathogenic RSPH4A genetic variants have been associated with PCD. In Puerto Rican Hispanics, a founder mutation (RSPH4A (c.921+3_921+6delAAGT (intronic)) has been described. The spectrum of the RSPH4A PCD phenotype does not include laterality defects, which results in a challenging diagnosis. PCD diagnostic tools can combine transmission electron microscopy (TEM), nasal nitric oxide (nNO), High-Speed Video microscopy Analysis (HSVA), and immunofluorescence. The purpose of this review article is to provide a comprehensive overview of current knowledge about the RSPH4A gene in PCD, ranging from basic science to human clinical phenotype.<\/jats:p>","DOI":"10.3390\/ijms24031936","type":"journal-article","created":{"date-parts":[[2023,1,19]],"date-time":"2023-01-19T02:51:37Z","timestamp":1674096697000},"page":"1936","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":25,"title":["The RSPH4A Gene in Primary Ciliary Dyskinesia"],"prefix":"10.3390","volume":"24","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-6133-3517","authenticated-orcid":false,"given":"Wilfredo","family":"De Jes\u00fas-Rojas","sequence":"first","affiliation":[{"name":"Department of Pediatrics and Basic Science, Ponce Health Sciences University, Ponce, PR 00716, USA"},{"name":"School of Medicine, University of Puerto Rico, Medical Sciences Campus, San Juan, PR 00921, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4441-6780","authenticated-orcid":false,"given":"Jes\u00fas","family":"Mel\u00e9ndez-Monta\u00f1ez","sequence":"additional","affiliation":[{"name":"Department of Pediatrics and Basic Science, Ponce Health Sciences University, Ponce, PR 00716, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jos\u00e9","family":"Mu\u00f1iz-Hern\u00e1ndez","sequence":"additional","affiliation":[{"name":"Department of Pediatrics and Basic Science, Ponce Health Sciences University, Ponce, PR 00716, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andr\u00e9","family":"Marra-Nazario","sequence":"additional","affiliation":[{"name":"School of Medicine, University of Puerto Rico, Medical Sciences Campus, San Juan, PR 00921, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Francisco","family":"Alvarado-Huerta","sequence":"additional","affiliation":[{"name":"School of Medicine, University of Puerto Rico, Medical Sciences Campus, San Juan, PR 00921, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Arnaldo","family":"Santos-L\u00f3pez","sequence":"additional","affiliation":[{"name":"Department of Pediatrics and Basic Science, Ponce Health Sciences University, Ponce, PR 00716, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marcos J.","family":"Ramos-Benitez","sequence":"additional","affiliation":[{"name":"Department of Pediatrics and Basic Science, Ponce Health Sciences University, Ponce, PR 00716, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ricardo A.","family":"Mosquera","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, McGovern Medical School, University of Texas Health Science Center at Houston, Houston, TX 77030, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2023,1,18]]},"reference":[{"key":"ref_1","first-page":"51","article-title":"Primary ciliary dyskinesia (PCD): A genetic disorder of motile cilia","volume":"4","author":"Leigh","year":"2019","journal-title":"Transl. 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