loading page

Case Report of a Chinese Cystic Fibrosis Boy with the c.1521_1523delCTT/c.3874-4522A>G Genotypes
  • +1
  • Yanyan Su,
  • xiaolei tang,
  • Yuelin Shen,
  • Yu Tang
Yanyan Su
Children's Hospital Affiliated to Zhengzhou University Henan children's hospital Zhengzhou children's Hospital

Corresponding Author:[email protected]

Author Profile
xiaolei tang
Beijing Children's Hospital Capital Medical University
Author Profile
Yuelin Shen
Beijing Children's Hospital Capital Medical University
Author Profile
Yu Tang
Children's Hospital Affiliated to Zhengzhou University Henan children's hospital Zhengzhou children's Hospital
Author Profile

Abstract

This report entails a case of an 11-year-old Chinese boy with cystic fibrosis (CF), who bears the c.1521_1523delCTT/c.3874-4522A>G genotype, which is extremely rare in Chinese population. Notably, the deep intron mutation c.3874-4522A>G was the first time identified among Chinese patients, which was reported mainly associated with mild phenotype. It is generally considered that a mild allele sustains CFTR function in a dominant fashion, even if paired with a severe allele. However, in the present report, the c.3874-4522A>G mutation was found related to severe pulmonary diseases, including early symptom onset, progressive bronchiectasis, recurrent airway P. aeruginosa combined with MRSA, rapid decline of lung function, and poor weight gain, which suggesting severe phenotype. Despite intensive chest care and optimized therapy, the child ultimately died of cardiopulmonary failure 3 months after discharge.
19 May 2022Submitted to Pediatric Pulmonology
19 May 2022Submission Checks Completed
19 May 2022Assigned to Editor
26 May 2022Reviewer(s) Assigned
31 May 2022Review(s) Completed, Editorial Evaluation Pending
01 Jun 2022Editorial Decision: Revise Major
16 Jul 20221st Revision Received
20 Jul 2022Reviewer(s) Assigned
20 Jul 2022Submission Checks Completed
20 Jul 2022Assigned to Editor
01 Aug 2022Review(s) Completed, Editorial Evaluation Pending
02 Aug 2022Editorial Decision: Revise Minor
04 Oct 20222nd Revision Received
07 Oct 2022Submission Checks Completed
07 Oct 2022Assigned to Editor
07 Oct 2022Reviewer(s) Assigned
13 Oct 2022Review(s) Completed, Editorial Evaluation Pending
13 Oct 2022Editorial Decision: Revise Minor
15 Oct 20223rd Revision Received
17 Oct 2022Review(s) Completed, Editorial Evaluation Pending
17 Oct 2022Submission Checks Completed
17 Oct 2022Assigned to Editor
06 Nov 2022Editorial Decision: Accept