AT

Failure to Thrive — Practice

Q1.Moderate
A 2-year-old boy is brought with recurrent lower respiratory tract infections since 6 months of age, failure to thrive, and bulky, greasy, foul-smelling stools. Sweat chloride test shows 75 mEq/L on two occasions. Which of the following gene mutations is most commonly responsible for this condition in the Indian subcontinent as well as globally?
AW1282X in CFTR gene
BΔF508 (Phe508del) in CFTR gene
CN1303K in CFTR gene
DG542X in CFTR gene