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Cystic Fibrosis (CF) is one of the most common autosomal recessive genetic diseases. In the United States, newborn screening programs screen for CF by measuring the level of Immunoreactive Trypsinogen (IRT). Positive IRT screens are followed by additional diagnostic testing, including sweat chloride testing and genetic testing of the CFTR gene. This report describes a female patient with a positive newborn screening result for CF, who was found to have one rare CFTR variant c.2249C>T (p.Pro750Leu, also known as P750L) in trans with c.1521_1523delCTT (p.Phe508del, also known as delF508), as does her sister. Clinical follow up for several years indicates that both siblings have minimal respiratory symptoms, normal growth parameters and laboratory testing. In contrast to previous reports, Pro750Leu may not be pathogenic for lung and pancreatic disease.

Compound Heterozygosity for CFTR Phe508del/Pro750Leu in Two Siblings with Normal Sweat Chloride, Lung Function, Growth, and Fecal Elastase