{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,16]],"date-time":"2026-10-16T04:46:29Z","timestamp":1792125989950,"version":"4.4.0"},"reference-count":31,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2026,7,20]],"date-time":"2026-07-20T00:00:00Z","timestamp":1784505600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2026,10,16]],"date-time":"2026-10-16T00:00:00Z","timestamp":1792108800000},"content-version":"vor","delay-in-days":88,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"funder":[{"name":"Shu Qiang Pediatric Cardiothoracic Surgery Expert Workstation, Yunnan","award":["YSZJGZZ-2022037"],"award-info":[{"award-number":["YSZJGZZ-2022037"]}]},{"DOI":"10.13039\/100018909","name":"Kunming Municipal Health and Family Planning Commission","doi-asserted-by":"publisher","award":["2023-SW(Technology)-00"],"award-info":[{"award-number":["2023-SW(Technology)-00"]}],"id":[{"id":"10.13039\/100018909","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Orphanet J Rare Dis"],"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>Primary ciliary dyskinesia (PCD) is a rare genetic disorder that is predominantly inherited in an autosomal recessive pattern and is caused by structural or functional ciliary abnormalities. Previous studies on the genetic susceptibility prevalence of PCD have been largely based on limited populations, and there is a lack of global estimates derived from large-scale population genetic databases. This study estimates the carrier frequency and genetic susceptibility prevalence of PCD via the latest data from the gnomAD v4.1.0 database and compares the results with those of previous studies.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>We selected genes related to PCD with \u201cDefinitive\u201d or \u201cStrong\u201d associations as determined by the ClinGen Motile Ciliopathy Gene Curation Expert Panel. According to ACMG\/AMP guidelines, variables were classified for pathogenicity, including loss-of-function variants (pLOFs) and pathogenic\/likely pathogenic missense variants. Using the allele frequency (AF) of these variants from the Genome Aggregation Database (gnomAD) v4.1.0 (containing data from 807,162 individuals) and applying the Hardy\u2012Weinberg equilibrium principle, we calculated the global and population-specific genetic susceptibility prevalence and carrier frequency of PCD.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>Among the 31 PCD-associated genes, 5252 eligible variants were included, comprising 5156 pLOF and 96 P\/LP variants. The estimated global genetic susceptibility prevalence of PCD is approximately 1 in 20,103, with a corresponding overall carrier frequency of approximately 1 in 25. The Middle East region has the highest prevalence rate of 1 in 4,744, as well as the highest carrier frequency.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>The estimated global genetic susceptibility prevalence of primary ciliary dyskinesia is approximately 1 in 20,103, with an overall carrier frequency of 1 in 25, indicating significant heterogeneity among ethnic populations. The global genetic susceptibility prevalence estimate is lower than the previous estimate of 1\/7,554.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1186\/s13023-026-04501-4","type":"journal-article","created":{"date-parts":[[2026,7,20]],"date-time":"2026-07-20T10:09:20Z","timestamp":1784542160000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Estimation of the genetic susceptibility prevalence of primary ciliary dyskinesia via the gnomAD v4.1.0 database"],"prefix":"10.1186","volume":"21","author":[{"given":"Rutao","family":"Dai","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ya","family":"Dao","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xichen","family":"Zhang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yongyu","family":"Ma","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xian","family":"Zhu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yunshan","family":"Gao","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jun","family":"Wu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Liu","family":"Sun","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2026,7,20]]},"reference":[{"issue":"1","key":"4501_CR1","doi-asserted-by":"publisher","first-page":"101228","DOI":"10.1016\/j.gim.2024.101228","volume":"27","author":"EF Andersen","year":"2025","unstructured":"Andersen EF, Azzariti DR, Babb L, Berg JS, Biesecker LG, Bly Z, Buchanan AH, DiStefano MT, Gong L, Harrison SM, Hunter JE, Kattman B, Klein TE, Landrum MJ, Manickam K, Marroquin AS, Martin CL, Milko LV, Milosavljevic A, Wright MW. 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