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Updated: May 18, 2026
08:58
Cystic Fibrosis Aggregate Biofilm Model to Study Infection-relevant Gene Expression
Published on: April 18, 2025
Cystic fibrosis: experience in one institution
Ling-Chun Liu1, Shyh-Dar Shyur1, Szu-Hung Chu1
1Department of Pediatrics, Mackay Memorial Hospital, Taipei, Taiwan.
Summary
This study details four Taiwanese cystic fibrosis (CF) cases, highlighting rare CFTR gene mutations. The findings expand understanding of CF genetics in Asian populations.
Area of Science:
- Genetics
- Pediatrics
- Respiratory Medicine
Background:
- Cystic fibrosis (CF) is a common autosomal recessive disorder in Caucasians, but rare in Asian populations.
- Few cases of Taiwanese CF have been documented, necessitating further research into its genetic landscape.
- Understanding CFTR gene mutations is crucial for diagnosis and treatment.
Observation:
- This report presents four Taiwanese CF cases from three families, detailing specific CFTR gene mutations.
- Case 1: Homozygosity for 3849+10kb C->T mutation (first report in Taiwanese).
- Cases 2 & 3: Heterozygous c.1898+5 G->T and a novel p.I1023R mutation.
- Case 4: Homozygosity for R553X mutation, complicated by cor pulmonale.
Findings:
- Identified diverse CFTR gene mutations in Taiwanese CF patients, including novel and homozygous variants.
- Confirmed the occurrence of CF in Taiwanese individuals, challenging its perceived rarity.
- Documented the clinical presentation and specific genetic mutations in four distinct cases.
Implications:
- These findings contribute to the genetic database of cystic fibrosis in Asian populations.
- Highlights the importance of considering CF in Taiwanese patients with respiratory symptoms.
- Provides valuable data for genetic counseling and potential targeted therapies for CF in Taiwan.
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