{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,24]],"date-time":"2026-02-24T05:48:45Z","timestamp":1771912125671,"version":"3.50.1"},"reference-count":37,"publisher":"MDPI AG","issue":"21","license":[{"start":{"date-parts":[[2021,10,30]],"date-time":"2021-10-30T00:00:00Z","timestamp":1635552000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["JCM"],"abstract":"<jats:p>Primary ciliary dyskinesia (PCD) is a poorly understood disorder. It is primarily autosomal recessive and is prevalent in tribal communities of the United Arab Emirates due to consanguineous marriages. This retrospective study aimed to assess the pathogenicity of the genetic variants of PCD in indigenous patients with significant clinical respiratory problems. Pathogenicity scores of variants obtained from the chart review were consolidated using the Ensembl Variant Effect Predictor. The multidimensional dataset of scores was clustered into three groups based on their pathogenicity. Sequence alignment and the Jensen\u2013Shannon Divergence (JSD) were generated to evaluate the amino acid conservation at the site of the variation. One-hundred and twelve variants of 28 genes linked to PCD were identified in 66 patients. Twenty-two variants were double heterozygous, two triple heterozygous, and seven homozygous. Of the thirteen novel variants, two, c.11839 + 1G &gt; A in dynein, axonemal, heavy chain 11 (DNAH11) and p.Lys92Trpfs in dynein, axonemal, intermediate chain 1 (DNAI1) were associated with dextrocardia with situs inversus, and one, p.Gly21Val in coiled-coil domain-containing protein 40 (CCDC40), with absent inner dynein arms. Homozygous C1orf127:p.Arg113Ter (rs558323413) was also associated with laterality defects in two related patients. The majority of variants were missense involving conserved residues with a median JSD score of 0.747. Homology models of two deleterious variants in the stalk of DNAH11, p.Gly3102Asp and p.Leu3127Arg, revealed structural importance of the conserved glycine and leucine. These results define potentially damaging PCD variants in the region. Future studies, however, are needed to fully comprehend the genetic underpinnings of PCD.<\/jats:p>","DOI":"10.3390\/jcm10215102","type":"journal-article","created":{"date-parts":[[2021,11,1]],"date-time":"2021-11-01T22:21:34Z","timestamp":1635805294000},"page":"5102","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":17,"title":["A Study on the Genetics of Primary Ciliary Dyskinesia"],"prefix":"10.3390","volume":"10","author":[{"given":"Mohammed T.","family":"Alsamri","sequence":"first","affiliation":[{"name":"Department of Pediatrics, Tawam Hospital, Al Ain P.O. Box 15258, United Arab Emirates"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Amnah","family":"Alabdouli","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Tawam Hospital, Al Ain P.O. Box 15258, United Arab Emirates"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Durdana","family":"Iram","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Tawam Hospital, Al Ain P.O. Box 15258, United Arab Emirates"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alia M.","family":"Alkalbani","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Tawam Hospital, Al Ain P.O. Box 15258, United Arab Emirates"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ayesha S.","family":"Almarzooqi","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, College of Medicine and Health Sciences, United Arab Emirates University, Al Ain P.O. Box 17666, United Arab Emirates"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Abdul-Kader","family":"Souid","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, College of Medicine and Health Sciences, United Arab Emirates University, Al Ain P.O. Box 17666, United Arab Emirates"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3830-7409","authenticated-orcid":false,"given":"Ranjit","family":"Vijayan","sequence":"additional","affiliation":[{"name":"Department of Biology, College of Science, United Arab Emirates University, Al Ain P.O. Box 15551, United Arab Emirates"},{"name":"Big Data Analytics Center, United Arab Emirates University, Al Ain P.O. Box 15551, United Arab Emirates"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2021,10,30]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"145","DOI":"10.1542\/pir.2016-0108","article-title":"Primary Ciliary Dyskinesia","volume":"38","author":"Butterfield","year":"2017","journal-title":"Pediatr. Rev."},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"449","DOI":"10.1016\/j.ccm.2016.04.008","article-title":"Primary Ciliary Dyskinesia","volume":"37","author":"Knowles","year":"2016","journal-title":"Clin. Chest Med."},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"722","DOI":"10.1111\/jpc.12791","article-title":"Presentation of primary ciliary dyskinesia in children: 30 years\u2019 experience","volume":"51","author":"Hosie","year":"2014","journal-title":"J. Paediatr. 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