Case Report
Copyright ©The Author(s) 2019. Published by Baishideng Publishing Group Inc. All rights reserved.
World J Clin Cases. Aug 6, 2019; 7(15): 2110-2119
Published online Aug 6, 2019. doi: 10.12998/wjcc.v7.i15.2110
c.753_754delAG, a novel CFTR mutation found in a Chinese patient with cystic fibrosis: A case report and review of the literature
Yu-Qing Wang, Chuang-Li Hao, Wu-Jun Jiang, Yan-Hong Lu, Hui-Quan Sun, Chun-Yan Gao, Min Wu
Yu-Qing Wang, Chuang-Li Hao, Wu-Jun Jiang, Yan-Hong Lu, Hui-Quan Sun, Chun-Yan Gao, Min Wu, Department of Respiratory Medicine, Children’s Hospital of Soochow University, Suzhou 215000, Jiangsu Province, China
Author contributions: Wang YQ wrote the main manuscript text; Hao CL and Wang YQ designed the study and revised the manuscript; Jiang WJ and Lu YH carried out the initial analyses; Sun HQ did the bronchoscopy and microbiological detection; Gao CY and Wu M did the data collection. All authors read and approved the final manuscript.
Supported by the National Natural Science Foundation of China, No. 81573167; Science and Technology Project of Jiangsu, No. BE2017657; Livelihood Science and Technology Project of Suzhou, No. SYS201640.
Informed consent statement: This study was approved by the Ethics Committee of Children’s Hospital of Soochow University, and written informed consent was obtained from the parents of the patient.
Conflict-of-interest statement: The authors declare that they have no conflict of interest.
CARE Checklist (2016) statement: The authors have read the CARE Checklist (2016), and the manuscript was prepared and revised according to the CARE
Open-Access: This article is an open-access article which was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution Non Commercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See:
Corresponding author: Yu-Qing Wang, MD, Chief Doctor, Deputy Director, Department of Respiratory Medicine, Children’s Hospital of Soochow University, No. 303, Jingde Road , Suzhou 215000, Jiangsu Province, China.
Telephone: +86-512-67788313 Fax: +86-512-67786316
Received: February 28, 2019
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.

Keywords: Cystic fibrosis, Cystic fibrosis transmembrane conductance regulator, Mutation, Chinese children, Case report

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.