Related Experiment Video
Updated: Aug 1, 2026
Forskolin-induced Swelling in Intestinal Organoids: An In Vitro Assay for Assessing Drug Response in Cystic Fibrosis Patients
Published on: February 11, 2017
Novel cystic fibrosis mutation (2215insG) in two adolescent Taiwanese siblings
1Department of Internal Medicine, Taichung Veterans General Hospital, Taiwan.
Insights
Cystic fibrosis (CF), a rare autosomal recessive disorder in Asians, was diagnosed in two Taiwanese siblings. Genetic analysis revealed known and novel CFTR gene mutations, confirming the diagnosis and highlighting rare CF cases in this population.
Area of Science:
- Medical Genetics
- Pulmonology
- Rare Diseases
Background:
- Cystic fibrosis (CF) is an autosomal recessive disorder with low prevalence in Asian populations.
- Only four CF cases have been previously reported in Taiwan, making it exceptionally rare.
Observation:
- Two teenage siblings presented with classic CF symptoms including recurrent airway infections, poor weight gain, digital clubbing, hypoxemia, and obstructive ventilatory impairment.
- High-resolution computed tomography revealed bronchiectasis and emphysema. Sweat chloride concentrations were significantly elevated (327 mmol/L and 276 mmol/L).
Findings:
- DNA mutation analysis of the CF transmembrane conductance regulator (CFTR) gene identified the known Taiwanese mutation 1898 + 5G-->T in both siblings.
- A novel mutation, 2215insG, was discovered in exon 13 of the CFTR gene on their second allele, predicted to severely disrupt CFTR function.
- A new missense mutation, S895N, in exon 15 of the CFTR gene was also identified and cosegregated with 2215insG.
Implications:
- This case report expands the understanding of CF genetic diversity in Taiwan.
- Identification of novel CFTR mutations contributes to the global CF mutation database and aids in accurate diagnosis.
- Understanding rare CF presentations in specific ethnic groups is crucial for improved clinical management and genetic counseling.
Abstract:
Cystic fibrosis (CF) is an autosomal recessive disorder that is rarely found in Asians. Only four cases of CF from four different families have been reported in Taiwan. We report two cases of CF involving two teenage siblings. Both presented with repeated airway infections, poor weight gain, clubbing of the fingers, hypoxemia, and obstructive ventilatory impairment. Multiple focal bronchiectases and emphysema were demonstrated on high-resolution computed tomography. Sweat chloride concentrations, as measured using the modified sweat chloride test in a closed space with a heater, were 327 mmol/L and 276 mmol/L, respectively. To confirm the CF diagnosis, DNA mutation analysis was performed. All 27 exons of the CF transmembrane conductance regulator (TR) gene and their flanking intron sequences were screened for nucleotide sequence alterations, and the mutations were then identified by direct DNA sequence analysis. Both siblings carried 1898 + 5G-->T; a mutation previously identified in Taiwan. In addition, the mutation analysis identified a new single-base-insertion mutation in exon 13 on the second CFTR allele of these patients. This mutation, named 2215insG, is expected to cause a significant disruption of CFTR function. The 1898 + 5G-->T/2215insG genotype is thus consistent with the CF diagnosis. A new missense mutation, S895N, in exon 15 of the CFTR gene, which cosegregated with 2215insG, was also identified in both of these patients.
Related Concept Videos
01:39Mutations
01:23Cystic Fibrosis: Pathogenesis
CF is primarily caused by a genetic mutation in a chromosome 7 gene coding for the cystic fibrosis transmembrane conductance regulator (CFTR) protein. The most common gene mutation leading to CF is the ΔF508 mutation, but...