OBJECTIVES: CF, caused due to abnormal transport of chloride, sodium and bicarbonate ions across epithelial cell membranes, is a multi-organ disorder. More than 1000 mutations causing CF, have been identified in the CFTR gene, of which AF508 is the most severe, predominant mutation. However, data on CF in India is limited. Also, facilities for CF diagnosis are not available at all diagnostic centres across India. RESULTS: AF508 mutation has been reported in 19-56% Indian patients. Also, the spectrum of mutations has been anticipated to be different, due to the identification of a wide range of novel and rare mutations. In addition to mutations, polymorphisms with clinical relevance and practical diagnostic value have also been identified. Clinical profile in Indian patients was also observed to be different. CONCLUSION: Though, Cystic Fibrosis has always been considered to be a rare disease in India, we hope that the identification of the wide range of mutations, leads us to the recognition of a probable increased incidence of CF in Indian patients. And this would attract greater attention to the diagnosis of this disease, so that a clinically appropriate assay can be developed for their detection as a preliminary test for CF diagnosis. The results observed during the study can be a step forward in planning a molecular screening and providing appropriate genetic counseling programs, which are lacking in our country at the moment.
OBJECTIVES: CF, caused due to abnormal transport of chloride, sodium and bicarbonate ions across epithelial cell membranes, is a multi-organ disorder. More than 1000 mutations causing CF, have been identified in the CFTR gene, of which AF508 is the most severe, predominant mutation. However, data on CF in India is limited. Also, facilities for CF diagnosis are not available at all diagnostic centres across India. RESULTS: AF508 mutation has been reported in 19-56% Indian patients. Also, the spectrum of mutations has been anticipated to be different, due to the identification of a wide range of novel and rare mutations. In addition to mutations, polymorphisms with clinical relevance and practical diagnostic value have also been identified. Clinical profile in Indian patients was also observed to be different. CONCLUSION: Though, Cystic Fibrosis has always been considered to be a rare disease in India, we hope that the identification of the wide range of mutations, leads us to the recognition of a probable increased incidence of CF in Indian patients. And this would attract greater attention to the diagnosis of this disease, so that a clinically appropriate assay can be developed for their detection as a preliminary test for CF diagnosis. The results observed during the study can be a step forward in planning a molecular screening and providing appropriate genetic counseling programs, which are lacking in our country at the moment.
Authors: Manzoor A Raina; Mosin S Khan; Showkat A Malik; Ab Hameed Raina; Mudassir J Makhdoomi; Javed I Bhat; Syed Mudassar Journal: J Clin Diagn Res Date: 2016-12-01