Exploring the diversity of < em > CFTR < /em > gene mutations in cystic fibrosis individuals of South Asia

CONCLUSION: In summary, the higher prevalence of consanguinity and the limited availability of CF diagnostic resources in South Asia considerably contribute to the prevalence of genetic disorders like CF. The spectrum of CFTR mutations exhibits noticeable variations within South Asian and other populations. The inclusion of current study-enlisted CFTR gene variants is highly recommended for CF disease genetic testing in South Asia which may aid in achieving a precise diagnosis, enhancing disease management, and discovering drugs for currently untreatable genetic variants. It is also imperative to conduct a comprehensive study in this region, especially in previously unexplored countries such as Nepal, Bhutan, Maldives, and Bangladesh.PMID:38153325 | DOI:10.1080/02770903.2023.2297365

Source: Journal of Asthma - December 28, 2023 Category: Respiratory Medicine Authors: Hassan Rafique Anum Safdar Muhammad Usman Ghani Ali Akbar Farheena Iqbal Awan Zartashay Naeem Ali Amar Mudassar Fareed Awan Syed Wajahat Ullah Rehan Sadiq Shaikh Source Type: research