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Cystic fibrosis: defining a disease under-diagnosed in Pakistan
Uzma Shah1, Phillipe Frossard, Tariq Moatter
1Harvard Medical School Dubai Center, Dubai, UAE. uzma.shah@hmsdc.dhcc.ae
Insights
Cystic fibrosis (CF) mutations in Pakistan are largely unknown. This study identified DeltaF508 in 17.3% of patients and S549N as the only other mutation, highlighting the need for broader genetic screening for CF diagnosis.
Area of Science:
- Genetics
- Molecular Biology
- Medical Diagnostics
Background:
- Cystic fibrosis (CF) is under-diagnosed in Pakistan due to a lack of specific diagnostic tools.
- Understanding the genetic basis of CF in this population is crucial for developing effective diagnostic strategies.
Purpose of the Study:
- To identify novel disease-causing mutations in Pakistani CF patients.
- To lay the groundwork for developing targeted diagnostic tests for CF in Pakistan.
Main Methods:
- Patients with suspected CF and elevated sweat chloride were recruited.
- Screening for known mutations (e.g., DeltaF508) using allele-specific PCR.
- Direct DNA sequencing of CFTR exons 10, 11, and 12.
Main Results:
- DeltaF508 mutation was found in 17.3% (26/150) of patients tested.
- One patient presented as a DeltaF508/S549N compound heterozygote.
- No other mutations were detected in the sequenced CFTR exons.
Conclusions:
- The common DeltaF508 mutation is infrequent in Pakistani CF patients.
- The S549 mutation was the only additional variant identified in the studied CFTR regions.
- Further research is needed to identify the full spectrum of CF mutations in Pakistan for improved diagnosis and management.
Objective:
Cystic fibrosis is frequently missed in the Pakistani population due to lack of appropriate diagnostic tools. Thus our aim was to define unknown disease-causing mutations to help create suitable diagnostic tests and improve understanding of what appears to be an aggressive and under-diagnosed disease in this population.
Methods:
Patients with elevated sweat chloride values and clinically suspected CF were recruited from Aga Khan University, Pakistan. Mutations DF508, S549R, S549N, Y569D, 296 + 12(T>C), G553X, G551D and G551X were screened for by allele specific polymerase chain reactions. CFTR exons 10, 11 and 12 were sequenced by direct DNA sequencing.
Results:
Of 150 patients tested by PCR, 26 (17.3%) were positive for DeltaF508. One patient was a F508/S549N compound heterozygote. Eighty-three of 87 patients sequenced for mutations in exon 10 were normal; 42/43 for exon 11 and 29 for exon 12 were normal.
Conclusion:
This first step in defining mutations involved in Pakistani CF suggests that DeltaF508 is uncommon and S549 was the only additional mutation identified in CFTR exons 10, 11 and 12. Identification of the remaining mutations and their frequency is required to design appropriate tests and improve understanding and management of the disease.
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