Published online Aug 6, 2019. doi: 10.12998/wjcc.v7.i15.2110
Peer-review started: March 4, 2019
First decision: May 31, 2019
Revised: June 23, 2019
Accepted: July 2, 2019
Article in press: July 2, 2019
Published online: August 6, 2019
Cystic fibrosis (CF) is rare in Asian populations relative to the Caucasian population. In this paper, we report the cystic fibrosis transmembrane conductance regulator (CFTR) variation in a family of Chinese CF patients, and systematically review the previous literature.
Here we report a 30-month-old Chinese girl who was diagnosed with CF based on her history and symptoms such as recurrent productive cough, wheezing with repeated infection of Pseudomonas aeruginosa, and parasinusitis. Chest computed tomography (CT) scanning revealed obvious exudative lesions and bilateral bronchiectasis. Liver CT scanning revealed a low-density lesion in the left lobe of the liver. A diagnosis of CF was made based upon CFTR gene tests. The CFTR gene was sequenced using the blood samples of her and her parents and showed a heterozygous novel missense mutation of c.753_754delAG in exon 7. In addition, a heterozygous c.1240 C>T mutation was found in exon 10 of the CFTR. The mutation c.753_754delAG was verified to have been inherited from her mother, and the c.1240 C>T mutation was from her father who was diagnosed with congenital absence of vas deferens.
A novel mutation of CFTR, c.753_754delAG, was found in a Chinese CF child. c.2909G>A is the most common mutation among Chinese CF patients.
Core tip: Cystic fibrosis (CF) is an autosomal recessive inherited disease caused by mutations in the CF transmembrane conduction regulator (CFTR) gene. CF is rare in Chinese. ΔF508 is the most common mutation, accounting for greater than two-thirds of CF alleles worldwide, though it is not a predominant mutation in Chinese CF patients. In this paper, we report a novel homozygous complex rearrangement involving CFTR exon 7 deletion (c.753_754delAG chr7-117176607-117176608) in a Chinese child with CF and describe the clinical feature. Moreover, we further review the literature regarding gene mutations in Chinese CF cases from the 1970s to 2017.