Complete mutational screening of the CFTR gene in 120 patients with pulmonary disease

Bombieri, Cristina; Benetazzo, M. G.; Saccomani, Arianna; Belpinati, Francesca; Gilè, L. S.; Luisetti, Maurizio; Pignatti, Pier Franco

doi:10.1007/s004390050897

Cited by 92 publications

(69 citation statements)

References 22 publications

(22 reference statements)

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“…An increased incidence of CFTR mutation has been found in bronchiectasis and at least one CFTR mutation was reported in 10% -50% of a series of patients in different studies (Girodon et al 1997;Bombieri et al 1998;Casals et al 2004;King et al 2004). Often in these patients, only one mutation is CF-causing and no particular mutations have been associated only with bronchiectasis.…”

Section: Cftr Mutations and Disseminated Bronchiectasismentioning

confidence: 99%

Assessing the Disease-Liability of Mutations in CFTR

Férec

Cutting

2012

Cold Spring Harbor Perspectives in Medicine

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Section: Cftr Mutations and Disseminated Bronchiectasismentioning

confidence: 99%

Assessing the Disease-Liability of Mutations in CFTR

Férec

Cutting

2012

Cold Spring Harbor Perspectives in Medicine

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“…Previously, we and others reported a relatively high frequency of R75Q among patients with congenital absence of the vas deferens (CAVD), 10,17,18 bronchiectasis, 7,19 atypical mild cystic fibrosis, 20 chronic idiopathic pancreatitis, 21 allergic bronchopulmonary aspergillosis, 22 and sarcoidosis. 7,8 Bombieri et al concluded from their study that R75Q may be a CFTR gene mutation characteristic of sarcoidosis. 8 Our results do not support this hypothesis.…”

Section: Discussionmentioning

confidence: 88%

“…Two successive studies from Italy reported a high frequency of CFTR mutations in individuals suffering from sarcoidosis. 7,8 The most frequent CFTR mutation was R75Q, which was present in three of 26 cases. 8 These findings prompted us to screen the panel of 63 families with two or more patients for R75Q.…”

Section: Introductionmentioning

confidence: 99%

CFTR gene mutations in sarcoidosis

et al. 2002

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Sarcoidosis is a complex disease of multiorgan granulomatous inflammation. Genetic susceptibility is involved in the pathogenesis of the disorder. Two successive studies from Italy have shown a high frequency of mutations of the cystic fibrosis transmembrane conductance regulator (CFTR) gene in patients suffering from sarcoidosis. We have genotyped a panel of 63 families with two or more affected siblings for the CFTR gene mutation R75Q, which was found to be present in three of 26 cases of the Italian study. Although R75Q was present in seven families, it was neither associated with the sarcoidosis phenotype in the German population (P=0.5), nor was it linked to sarcoidosis (P=0.54). In addition, a screening for 34 functional CFTR mutations was performed in a subset of 54 patients from 25 families. These patients were known to be concordant for at least one parental copy of the CFTR gene. With the exception of the mayor CF mutation DF508, which was present in three patients and absent in one patient from two families, we did not find any other CF mutation in these 54 patients. Our results do not support the hypothesis that CFTR mutations have a major influence on the pathogenesis of sarcoidosis.

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“…6 During a CFTR gene mutation screening in pulmonary diseases, we previously analysed a group of patients with a variety of obstructive and non-obstructive pulmonary diseases. 7 In that paper, we reported that 5/8 (62%) of sarcoidosis patients had a mutation in the CFTR gene. This high incidence in a limited number of patients prompted us to analyse a second enlarged series of patients to confirm the data.…”

Section: Introductionmentioning

confidence: 95%

Increased frequency of CFTR gene mutations in sarcoidosis: a case/control association study

et al. 2000

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A complete screening of the CFTR gene by DGGE and DNA sequencing was performed in patients with sarcoidosis. In 8/26 cases, missense and splicing CFTR gene mutations were found, a significant difference over controls (9/89) from the same population (P = 0.014). The odds ratio for a person with a CFTR gene mutation to develop the disease is 3.95 (1.18 < OR < 13.26). Seven different CFTR gene mutations were observed: R75Q, R347P, 621 + 3 A/G, 1898 + 3 A/G, L997F, G1069R, and a novel mutation which was detected in this study, I991V. R75Q mutation was present in 3/26 patients, a significant increase (P = 0.01) in cases over controls, indicating its preferential association with sarcoidosis. A trend towards disease progression was observed in patients with CFTR gene mutations compared to patients without mutations. These data suggest that CFTR gene mutations predispose to the development of sarcoidosis. European Journal of Human Genetics (2000) 8, 717-720.

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Complete mutational screening of the CFTR gene in 120 patients with pulmonary disease

Cited by 92 publications

References 22 publications

Assessing the Disease-Liability of Mutations in CFTR

Assessing the Disease-Liability of Mutations in CFTR

CFTR gene mutations in sarcoidosis

Increased frequency of CFTR gene mutations in sarcoidosis: a case/control association study

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