Assessing the Disease-Liability of Mutations in CFTR

Férec, Claude; Cutting, Garry R.

doi:10.1101/cshperspect.a009480

Cited by 86 publications

(69 citation statements)

References 105 publications

(111 reference statements)

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“…About 60% of patients with severe CFTR mutations (see article in this collection by Ferec and Cutting 2012) are born with exocrine pancreatic insufficiency (EPI) (Cipolli et al 2007), which progresses with age to include 85% -90% of patients (see Wilschanski and Novak 2013). Loss of bicarbonate-rich pancreatic fluids in patients with EPI alters the intestinal intraluminal milieu.…”

Section: Clinical Consequences Of Cf In the Intestinementioning

confidence: 99%

“…As in most other epithelial organs, CFTR in the intestine mediates secretion of chloride, bicarbonate, and fluid. Mutations in the CFTR gene may result in partial or total loss of function (see Ferec and Cutting 2012), resulting in secreted fluid with abnormally low volume and aberrant electrolyte composition. The altered milieu on the epithelial surface is believed to be the major cause of pathogenesis in affected organs, including the intestine.…”

mentioning

confidence: 99%

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The Cystic Fibrosis Intestine

Lisle

Borowitz

2013

Cold Spring Harbor Perspectives in Medicine

165

203

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Section: Clinical Consequences Of Cf In the Intestinementioning

confidence: 99%

mentioning

confidence: 99%

The Cystic Fibrosis Intestine

Lisle

Borowitz

2013

Cold Spring Harbor Perspectives in Medicine

165

203

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“…1 To date, more than 1,900 unique mutations have been described in the CFTR gene. 2 The observed phenotypic heterogeneity of CF is due to the variable impact of the underlying mutations, in combination with the action of genetic modifiers and environmental factors. 3 The phenotypic spectrum of CF ranges from a mild disease, found in ~15% of CF patients, to a progressive, multisystem disease primarily involving the pulmonary, pancreatic, and gastrointestinal systems.…”

Section: Original Research Articlementioning

confidence: 99%

Cystic fibrosis carrier screening in a North American population

Zvereff¹,

Faruki²,

Edwards³

et al. 2014

Genetics in Medicine

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Methods:Patients referred for cystic fibrosis screening from January 2005 through December 2010 were tested using either a 32-mutation panel (n = 1,601,308 individuals) or a 69-mutation panel (n = 109,830). Results:The carrier frequencies observed for the 69-mutation panel study population (1/36) and Caucasian (1/27) and African-American individuals (1/79) agree well with published cystic fibrosis carrier frequencies; however, a higher carrier frequency was observed for Hispanic-American individuals (1/48) using the 69-mutation panel as compared with the 32-mutation panel (1/69). The 69-mutation panel detected ~20% more mutations than the 32-mutation panel for both African-American and Hispanic-American individuals. Conclusion:Expanded panels using race-specific variants can improve cystic fibrosis carrier detection rates within specific populations. However, it is important that the pathogenicity and the relative frequency of these variants are confirmed. Genet Med advance online publication 19 December 2013

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“…As of today, only a minority of the 1950 known mutations have been analyzed at the protein level (Ferec and Cutting, 2012) and even fewer at the mRNA level. Studying the DNA/RNA obtained from clinically characterized CF patients has led to the identification of their mutations.…”

Section: Assigning Cftr Mutations To Cf Patients: a Methodsological Pementioning

confidence: 99%

Genetics of cystic fibrosis: CFTR mutation classifications toward genotype-based CF therapies

Fanen

Wohlhuter-Haddad

Hinzpeter

2014

The International Journal of Biochemistry & Cell Biology

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Cystic fibrosis (CF) is an autosomal recessive disease caused by mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene, which encodes an epithelial anion channel. This review presents the current CFTR mutation classifications according to their clinical consequences and to their effect on the structure and function of the CFTR channel. How these classifications are essential in the establishment of mutation-targeted therapeutic strategies is then discussed. The future of CFTR-targeted treatment lies in combinatory therapies that will enable CF patients to receive a customized treatment.3

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Assessing the Disease-Liability of Mutations in CFTR

Cited by 86 publications

References 105 publications

The Cystic Fibrosis Intestine

The Cystic Fibrosis Intestine

Cystic fibrosis carrier screening in a North American population

Genetics of cystic fibrosis: CFTR mutation classifications toward genotype-based CF therapies

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