Distinct CFTR Mutation Spectrum and Atypical Clinical Presentations in Chinese Patients with Cystic Fibrosis

Area of Science:

• Genetics
• Medical Research

Background:

• Cystic fibrosis (CF) is an autosomal recessive disorder caused by CFTR gene mutations.
• CF prevalence is ~1/2500-1/3500 in European ancestry, but underestimated in China (~1/128,000).
• Chinese CF patients exhibit a unique CFTR mutation spectrum, differing significantly from Western populations.

Purpose of the Study:

• To review the unique CFTR mutation spectrum in China.
• To discuss atypical CF phenotypes and diagnostic challenges in the Chinese population.
• To highlight the need for localized data and infrastructure for precision medicine.

Main Methods:

• Literature review of CFTR mutations and phenotypes in China.
• Analysis of diagnostic pathway deviations compared to Western standards.
• Discussion of challenges and requirements for advancing CF care in China.

Main Results:

• The p.Phe508del mutation is rare in China; region-specific mutations (e.g., p.Gly970Asp) and splicing variants predominate.
• Many Chinese CF patients present with CF-like phenotypes (e.g., CBAVD, pseudo-Bartter syndrome) lacking typical respiratory symptoms.
• Current diagnostic approaches in Western countries may not effectively identify CF in Chinese patients.

Conclusions:

• Localized CFTR mutation data and functional platforms are essential for accurate diagnosis and precision medicine in China.
• Addressing the unique CF landscape requires tailored diagnostic strategies and research.
• Transitioning to defect-correcting therapies necessitates collaborative efforts and infrastructure development.