The Phenotypic Consequences of CFTR Mutations
Top Cited Papers
- 27 August 2003
- journal article
- review article
- Published by Wiley in Annals of Human Genetics
- Vol. 67 (5), 471-485
- https://doi.org/10.1046/j.1469-1809.2003.00028.x
Abstract
Cystic fibrosis is a common autosomal recessive disorder that primarily affects the epithelial cells in the intestine, respiratory system, pancreas, gall bladder and sweat glands. Over one thousand mutations have currently been identified in the Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) gene that are associated with CF disease. There have been many studies on the correlation of the CFTR genotype and CF disease phenotype; however, this relationship is still not well understood. A connection between CFTR genotype and disease manifested in the pancreas has been well described, but pulmonary disease appears to be highly variable even between individuals with the same genotype. This review describes the current classification of CFTR mutation classes and resulting CF disease phenotypes. Complex disease alleles and modifier genes are discussed along with alternative disorders, such as disseminated bronchiectasis and pancreatitis, which are also thought to result from CFTR mutations.Keywords
This publication has 74 references indexed in Scilit:
- DNA polymorphisms in potential regulatory elements of the CFTR gene alter transcription factor bindingHuman Genetics, 2002
- Listening to silence and understanding nonsense: exonic mutations that affect splicingNature Reviews Genetics, 2002
- Qualitative and quantitative analysis of mRNA associated with four putative splicing mutations (621+3A→G, 2751+2T→A, 296+1G→C, 1717–9T→C-D565G) and one nonsense mutation (E822X) in the CFTR geneHuman Genetics, 2001
- A Naturally Occurring Sequence Variation That Creates a YY1 Element Is Associated with Increased Cystic Fibrosis Transmembrane Conductance Regulator Gene ExpressionOnline Journal of Public Health Informatics, 2000
- High heterogeneity for cystic fibrosis in Spanish families: 75 mutations account for 90% of chromosomesHuman Genetics, 1997
- Cystic fibrosis mutations in RomaniaEuropean Journal of Pediatrics, 1997
- Abnormal mRNA splicing resulting from three different mutations in the CFTR geneHuman Molecular Genetics, 1993
- ABC Transporters: From Microorganisms to ManAnnual Review of Cell Biology, 1992
- A yeast artificial chromosome contig encompassing the cystic fibrosis locusGenomics, 1991
- Expression of cystic fibrosis transmembrane conductance regulator corrects defective chloride channel regulation in cystic fibrosis airway epithelial cellsNature, 1990