Characterization of gene mutations and phenotypes of cystic fibrosis in Chinese patients

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Abstract
Background and objective: Cystic fibrosis (CF) is a relatively common autosomal recessive disorder in Caucasians. CF is considered a very rare disease in Asians, and fewer than 30 Chinese CF patients are reported in the literature. We enrolled seven patients of Chinese Han origin diagnosed with CF at the Peking Union Medical College Hospital, to characterize gene mutations and phenotypes of CF in Chinese patients.Methods: We analysed the clinical presentation and screened the coding region of the CFTR gene for each patient.Results: Patients were 0–6 years old at onset of symptoms and were 10–28 years old at the time of diagnosis with CF. None of the seven patients had a family history of CF, and only one patient had parents who were consanguineous. Two patients had gastrointestinal symptoms but stool Sudan III results were normal. Four of the seven CF patients also had allergic bronchopulmonary aspergillosis. The concentration of chloride in patients' sweat ranged from 66 mmol/l to 154 mmol/l. In total, we identified 11 different mutations in seven CF patients, including one novel mutation (△E7‐E11). Only one of these mutations (R553X) is present in the Caucasian CFTR common mutation‐screening panel; and none of the 11 mutations are common in Caucasian CF patients.Conclusions: CF 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 Chinese CF patients are different from the common Caucasian gene mutations.
Funding Information
  • National Natural Science Foundation of China (81300001)
  • Program for Changjiang Scholars and Innovative Research Team in University (LRT1006)
  • Funding for Peking Union Medical College Hospital Middle-aged and Young Researcher (I449000)

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