{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,7]],"date-time":"2026-10-07T08:32:56Z","timestamp":1791361976492,"version":"4.3.1"},"reference-count":15,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2024,7,14]],"date-time":"2024-07-14T00:00:00Z","timestamp":1720915200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100001411","name":"Indian Council of Medical Research","doi-asserted-by":"publisher","award":["5\/7\/1583\/2017\u2010RCH"],"award-info":[{"award-number":["5\/7\/1583\/2017\u2010RCH"]}],"id":[{"id":"10.13039\/501100001411","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001407","name":"Department of Biotechnology, Ministry of Science and Technology, India","doi-asserted-by":"publisher","award":["BT\/PR26396\/MED\/12\/790\/2017"],"award-info":[{"award-number":["BT\/PR26396\/MED\/12\/790\/2017"]}],"id":[{"id":"10.13039\/501100001407","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2024,11]]},"abstract":"Abstract<\/jats:title>\n \n Data are limited on the genetic profile of primary ciliary dyskinesia (PCD) from developing countries. Here, we report one of the first study on genetic profile of patients with suspected PCD from India. In this prospective cross\u2010sectional study, we enrolled 162 children with suspected PCD. We recorded clinical features, relevant laboratory tests for PCD and performed whole exome sequencing (WES). We are reporting 67 patients here who had positive variant\/s on WES. We had 117 variants in 40 genes among 67 patients. Among the 108 unique variants, 33 were categorized as pathogenic or likely pathogenic (P\/LP). We had nine novel variants in out cohort. The 29 definite PCD cases, diagnosed by composite reference standards, had variants in 16 genes namely\n LRRC6\/DNAAF11<\/jats:italic>\n (5),\n DNAH5<\/jats:italic>\n (3),\n CCDC39<\/jats:italic>\n (3),\n HYDIN<\/jats:italic>\n (3),\n DNAH11<\/jats:italic>\n (2),\n CCDC40<\/jats:italic>\n (2),\n CCDC65<\/jats:italic>\n (2) and one each\n DNAAF3<\/jats:italic>\n ,\n DNAAF2<\/jats:italic>\n ,\n CFAP300<\/jats:italic>\n ,\n RPGR<\/jats:italic>\n ,\n CCDC103<\/jats:italic>\n ,\n CCDC114<\/jats:italic>\n ,\n SPAG1<\/jats:italic>\n ,\n DNAI1<\/jats:italic>\n , and\n DNAH14<\/jats:italic>\n . To conclude, we identified 108 unique variants in 40 genes among 67 patients. The common genes involved in definite cases of PCD in Indian patients were\n LRRC6<\/jats:italic>\n ,\n DNAH5<\/jats:italic>\n ,\n CCDC39<\/jats:italic>\n , and\n HYDIN<\/jats:italic>\n . Our findings suggest a need to develop a separate genetic panel for PCD in the Indian population.\n <\/jats:p>","DOI":"10.1111\/cge.14590","type":"journal-article","created":{"date-parts":[[2024,7,15]],"date-time":"2024-07-15T02:08:21Z","timestamp":1721009301000},"page":"650-658","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":13,"title":["Genetics of 67 patients of suspected primary ciliary dyskinesia from India"],"prefix":"10.1111","volume":"106","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-3642-246X","authenticated-orcid":false,"given":"Kana Ram","family":"Jat","sequence":"first","affiliation":[{"name":"Department of Pediatrics All India Institute of Medical Sciences New Delhi India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8278-8396","authenticated-orcid":false,"given":"Mohammed","family":"Faruq","sequence":"additional","affiliation":[{"name":"CSIR Institute of Genomics and Integrative Biology New Delhi India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shishir","family":"Jindal","sequence":"additional","affiliation":[{"name":"Department of Pediatrics All India Institute of Medical Sciences New Delhi India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shreya","family":"Bari","sequence":"additional","affiliation":[{"name":"CSIR Institute of Genomics and Integrative Biology New Delhi India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Akshita","family":"Soni","sequence":"additional","affiliation":[{"name":"Department of Pediatrics All India Institute of Medical Sciences New Delhi India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pooja","family":"Sharma","sequence":"additional","affiliation":[{"name":"CSIR Institute of Genomics and Integrative Biology New Delhi India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Susi","family":"Mathews","sequence":"additional","affiliation":[{"name":"CSIR Institute of Genomics and Integrative Biology New Delhi India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Uzma","family":"Shamim","sequence":"additional","affiliation":[{"name":"CSIR Institute of Genomics and Integrative Biology New Delhi India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vanshika","family":"Ahuja","sequence":"additional","affiliation":[{"name":"CSIR Institute of Genomics and Integrative Biology New Delhi India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bharathram","family":"Uppilli","sequence":"additional","affiliation":[{"name":"CSIR Institute of Genomics and Integrative Biology New Delhi India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Subhash C.","family":"Yadav","sequence":"additional","affiliation":[{"name":"Department of Anatomy All India Institute of Medical Sciences New Delhi India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rakesh","family":"Lodha","sequence":"additional","affiliation":[{"name":"Department of Pediatrics All India Institute of Medical Sciences New Delhi India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sudheer K.","family":"Arava","sequence":"additional","affiliation":[{"name":"Department of Pathology All India Institute of Medical Sciences New Delhi India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sushil K.","family":"Kabra","sequence":"additional","affiliation":[{"name":"Department of Pediatrics All India Institute of Medical Sciences New Delhi India"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2024,7,14]]},"reference":[{"key":"e_1_2_12_2_1","doi-asserted-by":"publisher","DOI":"10.1089\/ped.2013.0314"},{"key":"e_1_2_12_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/S2213-2600(21)00453-7"},{"key":"e_1_2_12_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/S2213-2600(19)30374-1"},{"key":"e_1_2_12_5_1","doi-asserted-by":"publisher","DOI":"10.1183\/13993003.01551-2015"},{"key":"e_1_2_12_6_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0057262"},{"key":"e_1_2_12_7_1","doi-asserted-by":"publisher","DOI":"10.1513\/AnnalsATS.201511-748OC"},{"key":"e_1_2_12_8_1","doi-asserted-by":"publisher","DOI":"10.1183\/13993003.00776-2015"},{"key":"e_1_2_12_9_1","doi-asserted-by":"publisher","DOI":"10.1183\/13993003.00725-2019"},{"key":"e_1_2_12_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jmoldx.2016.07.002"},{"key":"e_1_2_12_11_1","doi-asserted-by":"publisher","DOI":"10.1513\/AnnalsATS.201306-194OC"},{"key":"e_1_2_12_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.chest.2020.09.276"},{"key":"e_1_2_12_13_1","doi-asserted-by":"publisher","DOI":"10.1007\/s12098-019-02970-z"},{"key":"e_1_2_12_14_1","doi-asserted-by":"publisher","DOI":"10.4103\/lungindia.lungindia_361_19"},{"key":"e_1_2_12_15_1","doi-asserted-by":"publisher","DOI":"10.1136\/thoraxjnl-2017-209999"},{"key":"e_1_2_12_16_1","doi-asserted-by":"publisher","DOI":"10.1164\/rccm.201805-0819ST"}],"container-title":["Clinical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/cge.14590","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,10,1]],"date-time":"2024-10-01T22:23:34Z","timestamp":1727821414000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/cge.14590"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,7,14]]},"references-count":15,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2024,11]]}},"alternative-id":["10.1111\/cge.14590"],"URL":"https:\/\/doi.org\/10.1111\/cge.14590","archive":["Portico"],"relation":{},"ISSN":["0009-9163","1399-0004"],"issn-type":[{"value":"0009-9163","type":"print"},{"value":"1399-0004","type":"electronic"}],"subject":[],"published":{"date-parts":[[2024,7,14]]},"assertion":[{"value":"2024-03-25","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2024-07-03","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2024-07-14","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}