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Cystic fibrosis is an autosomal recessive multisystem disease with significant morbidity and mortality in all parts of the world. Contrary to the popular belief, early genetic studies on cystic fibrosis confirmed that the condition does occur in India and the most prevalent delta F508 mutation occurred frequently, in 19-56% of cases [1-3]. The largest series on mutation analysis in Indian patients found that delta F508 mutation accounted for 31.1% mutations [4]. It was also noted that Indians may have a different spectrum of mutations as several new mutations were observed [4-6]. The carrier frequency of 0.42% appears to be an underestimate considering a 10 times higher incidence in Caucasians and the disease is not studied well in Indian population [7]. It also needs to be emphasized that it is not easy to diagnose and manage this condition in our country [8].

CFTR mutations in India: Need to do more! GENETICIST’S PERSPECTIVE