{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,6]],"date-time":"2025-10-06T06:05:07Z","timestamp":1759730707957},"reference-count":28,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2015,11,3]],"date-time":"2015-11-03T00:00:00Z","timestamp":1446508800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Clinical Respiratory J"],"published-print":{"date-parts":[[2017,11]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Introduction<\/jats:title><jats:p>Cystic fibrosis (CF) is the most common autosomal recessive disease among Caucasians but is rarer in the Chinese population, because mutations in the cystic fibrosis transmembrane conductance regulator (<jats:italic>CFTR<\/jats:italic>) gene.<\/jats:p><\/jats:sec><jats:sec><jats:title>Objectives<\/jats:title><jats:p>To elucidate the causative role of a novel compound heterozygous mutation of CF.<\/jats:p><\/jats:sec><jats:sec><jats:title>Materials and Methods<\/jats:title><jats:p>In this study, clinical samples were obtained from two siblings with recurrent airway infections, clubbed fingers, salt\u2010sweat and failure to gain weight in a non\u2010consanguineous Chinese family. Next\u2010generation sequencing was performed on the 27 coding exons of <jats:italic>CFTR<\/jats:italic> in both children, with confirmation by Sanger sequencing.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Next\u2010generation sequencing showed the same compound heterozygous <jats:italic>CFTR<\/jats:italic> mutation (<jats:italic>c.865A&gt;T p.Arg289X<\/jats:italic> and <jats:italic>c.3651_3652insAAAT p.Tyr1219X<\/jats:italic>) in both children.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>As this mutation is consistent with the clinical manifestations of CF and no other mutations were detected after scanning the gene sequence, we suggest that the CF phenotype is caused by compound heterozygosity for <jats:italic>c.865A&gt;T<\/jats:italic> and <jats:italic>c.3651_3652insAAAT<\/jats:italic>. As <jats:italic>c865A<\/jats:italic>&gt;<jats:italic>T<\/jats:italic> is not currently listed in the \u201cCystic Fibrosis Mutation Database\u201d, this information about CF in a Chinese population is of interest.<\/jats:p><\/jats:sec>","DOI":"10.1111\/crj.12401","type":"journal-article","created":{"date-parts":[[2015,10,16]],"date-time":"2015-10-16T08:50:00Z","timestamp":1444985400000},"page":"696-702","source":"Crossref","is-referenced-by-count":9,"title":["A new compound heterozygous <scp>CFTR<\/scp> mutation in a <scp>C<\/scp>hinese family with cystic fibrosis"],"prefix":"10.1111","volume":"11","author":[{"given":"Yingjun","family":"Xie","sequence":"first","affiliation":[{"name":"Department of Prenatal Diagnosis The First Affiliated Hospital of Sun Yat\u2010sen University Guangzhou 510080 China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xueqiong","family":"Huang","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Pediatric Intensive Care 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