In the heterozygous state, the cystic fibrosis transmembrane conductance regulator (CFTR) exon 11 mutation G551D has been described as "severe," causing pancreatic insufficiency. Two cystic fibrosis (CF) patients homozygous for this mutation showed a mild rather than severe pancreatic phenotype and a variable pulmonary phenotype.

The most prevalent form of cystic fibrosis arises from an amino acid deletion in the cystic fibrosis transmembrane conductance regulator, CFTR. A recently approved treatment for individuals homozygous for this mutation combines a chemical corrector, which helps CFTR fold, and a potentiator that increases CFTR channel activity.

A a Abstract. Cystic fibrosis (CF) is a common and serious condition with autosomal recessive inheritance. It is caused by mutations in the cystic fibrosis transmembrane conductance regulator gene (CFTR). The frequencies of mutations vary according to the ethnic origin of populations. We describe in this study a patient with cystic fibrosis. She was homozygous for a new nonsense mutation identi...

Cystic fibrosis is the most common autosomal recessive genetic disease in Caucasians and has been extensively studied for many decades. The cystic fibrosis transmembrane conductance regulator gene was identified in 1989. It encodes a complex protein which has numerous cellular functions. Our understanding of cystic fibrosis pathophysiology and genetics is constantly expanding and being refined,...

Cystic fibrosis (CF) is an autosomal recessive disorder and caused by variants in the Fibrosis Transmembrane Conductance Regulator (CFTR) gene. We aimed to study frequency of F508del variant, most common variant worldwide, patients with CF from Paraguay. The Paraguayan a clinical diagnosis was assessed using polymerase chain reaction followed sequencing PCR products. 43 86 (50%) were homozygous...

INTRODUCTION Recent studies suggest an important role of the cystic fibrosis transmembrane conductance regulator gene in the development of pancreatitis. It occurs approximately in 20% of patients with cystic fibrosis and almost exclusively in pancreatic sufficient people. Newborn screening and improved panels of deoxyribonucleic acid mutation analysis techniques are revealing more rare and non...