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

Abstract Background and objective Cystic fibrosis ( CF ) is a relatively common autosomal recessive disorder in C aucasians. CF is considered a very rare disease in A sians, and fewer than 30 C hinese CF patients are reported in the literature. We enrolled seven patients of C hinese H an origin diagnosed with CF at the P eking U nion M edical C ollege Hospital, to characterize gene mutations and phenotypes of CF in C hinese 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 S udan 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 (△ E 7‐ E 11). Only one of these mutations ( R 553 X ) is present in the C aucasian CFTR common mutation‐screening panel; and none of the 11 mutations are common in C aucasian 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 C hinese CF patients are different from the common C aucasian gene mutations.