Genetics of Cystic Fibrosis

ABSTRACT

Cystic fibrosis (CF) is a complicated disease involving many organ systems. Identification of the cystic fibrosis transmembrane regulator (CFTR) genetic code has not only enhanced our understanding of the mechanism of CF pathology but has also provided explanations for phenotypic variation. Additionally, genetic testing has refined our ability to identify patients with CF and CF-related illnesses.

Genetic mutations may be grouped by class (I–VI) and are directly related to the quantity of CFTR protein produced. This has direct implications regarding the severity of disease and has suggested organ-specific sensitivity to the presence of normally functioning CFTR. Further, it has improved understanding of the mechanism behind seemingly organ-specific manifestations of CF, such as congenital bilateral absence of the vas deferens (CBVAD).

KEYWORDS

Cystic fibrosis transmembrane regulator (CFTR) - mutations - ▵F508 - congenital bilateral absence of the vas deferens (CBAVD) - idiopathic chronic pancreatitis (ICP) - newborn screening (NBS)

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