Differences in gene mutations between Chinese and Caucasian cystic fibrosis patients

Cystic fibrosis (CF) is rarely seen in Asian populations. We diagnosed two CF cases. One of them had a novel mutation c.870-1G>C in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. There have been 38 Chinese CF patients reported in literature from 1974 until the present (2016), 25 different mutations were identified. Only one of these mutations (R553X) is in the Caucasian CF screening panel. The mutations identified in Chinese CF patients are very different from the common Caucasian gene mutations. The CFTR gene mutation spectrum for the Chinese population requires further investigation. Pediatr Pulmonol. 2017;52:E11-E14.