{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,29]],"date-time":"2026-06-29T13:36:21Z","timestamp":1782740181505,"version":"3.54.5"},"reference-count":24,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2016,11,13]],"date-time":"2016-11-13T00:00:00Z","timestamp":1478995200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/100001236","name":"Medical Foundation","doi-asserted-by":"publisher","award":["200940007"],"award-info":[{"award-number":["200940007"]}],"id":[{"id":"10.13039\/100001236","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Molec Gen &amp; Gen Med"],"published-print":{"date-parts":[[2017,1]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Cystic fibrosis (<jats:styled-content style=\"fixed-case\">CF<\/jats:styled-content>) is a rare condition in Asians. Since 1985, only about 30 Chinese patients have been reported with molecular confirmation.<\/jats:p><\/jats:sec><jats:sec><jats:title>Method<\/jats:title><jats:p>Using our in\u2010house next\u2010generation sequencing (<jats:styled-content style=\"fixed-case\">NGS<\/jats:styled-content>) pipeline for childhood bronchiectasis, we identified disease\u2010causing <jats:italic><jats:styled-content style=\"fixed-case\">CFTR<\/jats:styled-content><\/jats:italic> mutations in <jats:styled-content style=\"fixed-case\">CF<\/jats:styled-content> patients in Hong Kong. After identifying p.I1023R in multiple patients, haplotype analysis was performed with genome\u2010wide microarray to ascertain the likelihood of this being a founder mutation. We also assessed the processing and gating activity of the mutant protein by Western hybridization and patch\u2010clamp test.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Molecular diagnoses were confirmed in four patients, three of whom shared a missense mutation: <jats:italic><jats:styled-content style=\"fixed-case\">CFTR<\/jats:styled-content><\/jats:italic>:c.3068T&gt;G:p.I1023R. The results suggested that p.I1023R is a founder mutation in southern Han Chinese. In addition, the processing and gating activity of the mutant protein was assessed by gel electrophoresis and a patch\u2010clamp test. The mutant protein exhibited trafficking defects, suggesting that the dysfunction is caused by reduced cell surface expression of the fully glycosylated proteins.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>Together with other previously reported mutations, the specific founder mutation presented herein suggests a unique <jats:italic><jats:styled-content style=\"fixed-case\">CFTR<\/jats:styled-content><\/jats:italic> mutation spectrum in the southern Chinese populations, and this finding has vital implications for improving molecular testing and mutation\u2010specific treatments for Chinese patients with <jats:styled-content style=\"fixed-case\">CF<\/jats:styled-content>.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mgg3.258","type":"journal-article","created":{"date-parts":[[2016,11,15]],"date-time":"2016-11-15T06:06:42Z","timestamp":1479190002000},"page":"40-49","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":19,"title":["<i><scp>CFTR<\/scp><\/i> founder mutation causes protein trafficking defects in Chinese patients with cystic fibrosis"],"prefix":"10.1002","volume":"5","author":[{"given":"Gordon K. C.","family":"Leung","sequence":"first","affiliation":[{"name":"Department of Paediatrics and Adolescent Medicine LKS Faculty of Medicine The University of Hong Kong Hong Kong Hong Kong"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dingge","family":"Ying","sequence":"additional","affiliation":[{"name":"Department of Psychiatry LKS Faculty of Medicine The University of Hong Kong Hong Kong Hong Kong"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christopher C. Y.","family":"Mak","sequence":"additional","affiliation":[{"name":"Department of Paediatrics and Adolescent Medicine LKS Faculty of Medicine The University of Hong Kong Hong Kong Hong Kong"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xin\u2010Ying","family":"Chen","sequence":"additional","affiliation":[{"name":"HKU Shenzhen Institute of Research and Innovation School of Biomedical Sciences The University of Hong Kong Hong Kong Hong Kong"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Weiyi","family":"Xu","sequence":"additional","affiliation":[{"name":"HKU Shenzhen Institute of Research and Innovation School of Biomedical Sciences The University of Hong Kong Hong Kong Hong Kong"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kit\u2010San","family":"Yeung","sequence":"additional","affiliation":[{"name":"Department of Paediatrics and Adolescent Medicine LKS Faculty of Medicine The University of Hong Kong Hong Kong Hong Kong"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wai\u2010Lap","family":"Wong","sequence":"additional","affiliation":[{"name":"Department of Paediatrics and Adolescent Medicine LKS Faculty of Medicine The University of Hong Kong Hong Kong Hong Kong"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yoyo W. Y.","family":"Chu","sequence":"additional","affiliation":[{"name":"Department of Paediatrics and Adolescent Medicine LKS Faculty of Medicine The University of Hong Kong Hong Kong Hong Kong"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gary T. K.","family":"Mok","sequence":"additional","affiliation":[{"name":"Department of Paediatrics and Adolescent Medicine LKS Faculty of Medicine The University of Hong Kong Hong Kong Hong Kong"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christy S. K.","family":"Chau","sequence":"additional","affiliation":[{"name":"Department of Paediatrics and Adolescent Medicine Queen Mary Hospital Hong Kong Hong Kong"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jenna","family":"McLuskey","sequence":"additional","affiliation":[{"name":"NHS Lothian Lothian NHS Board Edinburgh UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Winnie P. T.","family":"Ong","sequence":"additional","affiliation":[{"name":"Department of Genetics Kuala Lumpur Hospital Kuala Lumpur Malaysia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Huey\u2010Yin","family":"Leong","sequence":"additional","affiliation":[{"name":"Department of Genetics Kuala Lumpur Hospital Kuala Lumpur Malaysia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kelvin Y. K.","family":"Chan","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynaecology Tsan Yuk Hospital Hong Kong Hong Kong"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wanling","family":"Yang","sequence":"additional","affiliation":[{"name":"Department of Paediatrics and Adolescent Medicine LKS Faculty of Medicine The University of Hong Kong Hong Kong Hong Kong"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jeng\u2010Haur","family":"Chen","sequence":"additional","affiliation":[{"name":"HKU Shenzhen Institute of Research and Innovation School of Biomedical Sciences The University of Hong Kong Hong Kong Hong Kong"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Albert M.","family":"Li","sequence":"additional","affiliation":[{"name":"Department of Paediatrics Faculty of Medicine The Chinese University of Hong Kong Hong Kong Hong Kong"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pak C.","family":"Sham","sequence":"additional","affiliation":[{"name":"Department of Psychiatry LKS Faculty of Medicine The University of Hong Kong Hong Kong Hong Kong"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yu\u2010Lung","family":"Lau","sequence":"additional","affiliation":[{"name":"Department of Paediatrics and Adolescent Medicine LKS Faculty of Medicine The University of Hong Kong Hong Kong Hong Kong"},{"name":"Department of Paediatrics and Adolescent Medicine Queen Mary Hospital Hong Kong Hong Kong"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Brian H. 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