{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,3]],"date-time":"2026-10-03T02:30:47Z","timestamp":1790994647901,"version":"4.1.0"},"reference-count":19,"publisher":"MDPI AG","issue":"7","license":[{"start":{"date-parts":[[2026,3,29]],"date-time":"2026-03-29T00:00:00Z","timestamp":1774742400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"Puerto Rico PCD Foundation"},{"name":"Research Centers in Minority Institutions (RCMI) Center for Research Resources"},{"name":"Molecular and Genomics Core","award":["U54MD007579"],"award-info":[{"award-number":["U54MD007579"]}]},{"name":"Department of Pediatrics, McGovern Medical School at UTHealth Houston\n              https:\/\/ror.org\/03gds6c39"},{"name":"Graham family"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Cells"],"abstract":"<jats:p>Primary ciliary dyskinesia (PCD) is a rare ciliopathy resulting in chronic oto-sino-pulmonary disease. PCD diagnosis can be achieved by a combination of different diagnostic and adjuvant tools, including high-speed video-microscopy analysis (HSVA). A founder variant has been described in Puerto Rico as the most common cause of PCD in the island. Background\/Objectives: In HSVA, objective parameters such as ciliary beat frequency (CBF) and subjective parameters such as ciliary beat pattern (CBP) shed light on the biophysical properties of cilia. However, the subjective nature of CBP creates a gap in knowledge; characteristics such as the length, angle, and bending index of cilia are poorly described. Our goal is to quantify cilia dynamics of the RSPH4A (c.921+3_921+6delAAGT (intronic)) founder variant in Puerto Rico through biophysical properties of cilia. This approach enhances longitudinal patient care by understanding treatment progress through biophysical ciliary function. Methods: We analyzed images from HSVA of six patients with PCD homozygous for the founder variant and six healthy controls (HC) (n = 12). Results: We found that ciliary length (PCD = 7.62 \u00b1 0.95 \u03bcm, HC = 8.12 \u00b1 1.36 \u03bcm, p = 0.204 ns), orientation vector (PCD = 7.20 \u00b1 0.93 \u03bcm, HC = 7.25 \u00b1 1.01 \u03bcm, p = 0.883 ns), straight angle (PCD = 1.67 \u00b1 0.27 rad, HC = 1.76 \u00b1 0.29 rad, p = 0.380 ns), and area (PCD = 2.35 \u00b1 0.52 \u03bcm2, HC = 2.10 \u00b1 0.53 \u03bcm2, p = 0.264 ns) did not have statistically significant differences between PCD and HC. In contrast, bending index (PCD = 1.06 \u00b1 0.04, HC = 1.12 \u00b1 0.09, p = 0.01), bent angle (PCD = 1.11 \u00b1 0.30 rad, HC = 0.67 \u00b1 0.21 rad, p &lt; 0.0001), net angle (PCD = 0.56 \u00b1 0.26 rad, HC = 1.09 \u00b1 0.35 rad, p &lt; 0.0001), amplitude (PCD = 5.77 \u00b1 1.25 \u03bcm, HC = 7.99 \u00b1 1.65 \u03bcm, p &lt; 0.0001), and amplitude per second (PCD = 48.83 \u00b1 13.23 A(s), HC = 91.66 \u00b1 27.96 A(s), p &lt; 0.0001) showed significant differences between both groups. Conclusions: Reduced angular excursion and amplitude in PCD demonstrate that the beating pattern of the RSPH4A founder variant is dysfunctional as compared with healthy controls. Our study provides an objective framework to understand the biophysical properties of the RSPH4A founder variant.<\/jats:p>","DOI":"10.3390\/cells15070607","type":"journal-article","created":{"date-parts":[[2026,3,30]],"date-time":"2026-03-30T13:41:03Z","timestamp":1774878063000},"page":"607","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Cilia Dynamics in Primary Ciliary Dyskinesia: A Biophysical Characterization of the RSPH4A Founder Variant"],"prefix":"10.3390","volume":"15","author":[{"ORCID":"https:\/\/orcid.org\/0009-0004-8279-2589","authenticated-orcid":false,"given":"Gabriel","family":"Rosario-Ortiz","sequence":"first","affiliation":[{"name":"Department of Pediatrics and Basic Science, Ponce Health Sciences University, Ponce, PR 00716, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0000-7958-1562","authenticated-orcid":false,"given":"Jos\u00e9","family":"Mu\u00f1iz-Hern\u00e1ndez","sequence":"additional","affiliation":[{"name":"San Juan Bautista School of Medicine, Caguas, PR 00725, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Natalia M.","family":"Ortiz-P\u00e9rez","sequence":"additional","affiliation":[{"name":"Department of Pediatrics and Basic Science, Ponce Health Sciences University, Ponce, PR 00716, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9445-3294","authenticated-orcid":false,"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 at UTHealth Houston, Houston, TX 77030, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6133-3517","authenticated-orcid":false,"given":"Wilfredo","family":"De Jes\u00fas-Rojas","sequence":"additional","affiliation":[{"name":"Department of Pediatrics and Basic Science, Ponce Health Sciences University, Ponce, PR 00716, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2026,3,29]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"e24","DOI":"10.1164\/rccm.201805-0819ST","article-title":"Diagnosis of primary ciliary dyskinesia: An official American thoracic society clinical practice guideline","volume":"197","author":"Shapiro","year":"2018","journal-title":"Am. 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