{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,27]],"date-time":"2026-09-27T03:51:04Z","timestamp":1790481064052,"version":"4.1.0"},"reference-count":29,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2015,1,8]],"date-time":"2015-01-08T00:00:00Z","timestamp":1420675200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"crossref","award":["81300001"],"award-info":[{"award-number":["81300001"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"crossref"}]},{"name":"Program for Changjiang Scholars and Innovative Research Team in University","award":["LRT1006"],"award-info":[{"award-number":["LRT1006"]}]},{"name":"Funding for Peking Union Medical College Hospital Middle-aged and Young Researcher","award":["I449000"],"award-info":[{"award-number":["I449000"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Respirology"],"published-print":{"date-parts":[[2015,2]]},"abstract":"Abstract<\/jats:title>Background and objective<\/jats:title>Cystic fibrosis (CF<\/jats:styled-content>) is a relatively common autosomal recessive disorder in C<\/jats:styled-content>aucasians. CF<\/jats:styled-content> is considered a very rare disease in A<\/jats:styled-content>sians, and fewer than 30 C<\/jats:styled-content>hinese CF<\/jats:styled-content> patients are reported in the literature. We enrolled seven patients of C<\/jats:styled-content>hinese H<\/jats:styled-content>an origin diagnosed with CF<\/jats:styled-content> at the P<\/jats:styled-content>eking U<\/jats:styled-content>nion M<\/jats:styled-content>edical C<\/jats:styled-content>ollege Hospital, to characterize gene mutations and phenotypes of CF<\/jats:styled-content> in C<\/jats:styled-content>hinese patients.<\/jats:p><\/jats:sec>Methods<\/jats:title>We analysed the clinical presentation and screened the coding region of the CFTR<\/jats:italic><\/jats:styled-content> gene for each patient.<\/jats:p><\/jats:sec>Results<\/jats:title>Patients were 0\u20136 years old at onset of symptoms and were 10\u201328 years old at the time of diagnosis with CF<\/jats:styled-content>. None of the seven patients had a family history of CF<\/jats:styled-content>, and only one patient had parents who were consanguineous. Two patients had gastrointestinal symptoms but stool S<\/jats:styled-content>udan III<\/jats:styled-content> results were normal. Four of the seven CF<\/jats:styled-content> patients also had allergic bronchopulmonary aspergillosis. The concentration of chloride in patients' sweat ranged from 66\u2009mmol\/l to 154\u2009mmol\/l. In total, we identified 11 different mutations in seven CF<\/jats:styled-content> patients, including one novel mutation (\u25b3E<\/jats:styled-content>7\u2010E<\/jats:styled-content>11). Only one of these mutations (R<\/jats:styled-content>553X<\/jats:styled-content>) is present in the C<\/jats:styled-content>aucasian CFTR<\/jats:styled-content> common mutation\u2010screening panel; and none of the 11 mutations are common in C<\/jats:styled-content>aucasian CF<\/jats:styled-content> patients.<\/jats:p><\/jats:sec>Conclusions<\/jats:title>CF<\/jats:styled-content> in China is difficult to diagnose because of a combination of low awareness, atypical clinical symptoms, and a lack of sweat and genetic testing facilities in most hospitals. The mutations identified in C<\/jats:styled-content>hinese CF<\/jats:styled-content> patients are different from the common C<\/jats:styled-content>aucasian gene mutations.<\/jats:p><\/jats:sec>","DOI":"10.1111\/resp.12452","type":"journal-article","created":{"date-parts":[[2015,1,8]],"date-time":"2015-01-08T07:47:52Z","timestamp":1420703272000},"page":"312-318","source":"Crossref","is-referenced-by-count":39,"title":["Characterization of gene mutations and phenotypes of cystic fibrosis in C<\/scp>hinese patients"],"prefix":"10.1111","volume":"20","author":[{"given":"Yaping","family":"Liu","sequence":"first","affiliation":[{"name":"Department of Medical Genetics School of Basic Medicine Peking Union Medical College Beijing China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lianqing","family":"Wang","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics School of Basic Medicine Peking Union Medical College Beijing China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xinlun","family":"Tian","sequence":"additional","affiliation":[{"name":"Department of Respiratory Medicine Peking Union Medical College Hospital Beijing China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kai\u2010Feng","family":"Xu","sequence":"additional","affiliation":[{"name":"Department of Respiratory Medicine Peking Union Medical College Hospital Beijing China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wenbing","family":"Xu","sequence":"additional","affiliation":[{"name":"Department of Respiratory Medicine Peking Union Medical College Hospital Beijing China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xue","family":"Li","sequence":"additional","affiliation":[{"name":"Department of Respiratory Medicine Peking Union Medical College Hospital Beijing China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cai","family":"Yue","sequence":"additional","affiliation":[{"name":"Department of Internal Medicine Peking Union Medical College Hospital Beijing China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Peng","family":"Zhang","sequence":"additional","affiliation":[{"name":"Department of Respiratory Medicine Peking Union Medical College Hospital Beijing China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yi","family":"Xiao","sequence":"additional","affiliation":[{"name":"Department of Respiratory Medicine Peking Union Medical College Hospital Beijing China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xue","family":"Zhang","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics School of Basic Medicine Peking Union Medical College Beijing China"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2015,1,8]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jpeds.2008.05.005"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1542\/peds.113.6.1573"},{"key":"e_1_2_7_4_1","first-page":"5","article-title":"The first case of CF in Mainland China identified by DNA analysis","volume":"12","author":"Chen B","year":"1995","journal-title":"Zhonghua Yi Xue Yi Chuan Xue Za Zhi"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10038-005-0309-x"},{"key":"e_1_2_7_6_1","first-page":"829","article-title":"[Clinical manifestations and gene analysis of 2 Chinese children with cystic fibrosis]","volume":"50","author":"Liu JR","year":"2012","journal-title":"Zhonghua Er Ke Za Zhi"},{"key":"e_1_2_7_7_1","first-page":"564","article-title":"Novel cystic fibrosis mutation (2215insG) in two adolescent Taiwanese siblings","volume":"99","author":"Wu CL","year":"2000","journal-title":"J. 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