RGD Reference Report - Increased incidence of cystic fibrosis gene mutations in adults with disseminated bronchiectasis. - Rat Genome Database

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Increased incidence of cystic fibrosis gene mutations in adults with disseminated bronchiectasis.

Authors: Pignatti, PF  Bombieri, C  Marigo, C  Benetazzo, M  Luisetti, M 
Citation: Pignatti PF, etal., Hum Mol Genet. 1995 Apr;4(4):635-9.
RGD ID: 4140447
Pubmed: PMID:7543317   (View Abstract at PubMed)

In order to identify a possible hereditary predisposition to the development of obstructive pulmonary disease of unknown origin, we have looked for the presence of Cystic Fibrosis Transmembrane Regulator (CFTR) gene mutations in unrelated patients with no signs of Cystic Fibrosis (CF). We screened for 70 common mutations, and also for rare mutations by denaturing gradient gel electrophoresis analysis. In this search, different CFTR gene mutations (R75Q, delta F508, R1066C, M1137V and 3667ins4) were found in five out of 16 adult Italian patients with disseminated bronchiectasis, a significant increase over the expected frequency of carriers. Moreover, three rare CFTR gene DNA polymorphisms (G576A, R668C, and 2736 A-->G), not deemed to be the cause of CF, were found in two patients, one of which was a compound heterozygote with R1066C. These results indicate that CFTR gene mutations, and perhaps also DNA polymorphisms, may be involved in the etiopathogenesis of at least some cases of bronchiectasis.

RGD Manual Disease Annotations    Click to see Annotation Detail View
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
bronchiectasis susceptibilityIAGP 4140447DNA:mutations and polymorphisms:RGD 
bronchiectasis susceptibilityISOCFTR (Homo sapiens)4140447; 4140447DNA:mutations and polymorphisms:RGD 

Objects Annotated

Genes (Rattus norvegicus)
Cftr  (CF transmembrane conductance regulator)

Genes (Mus musculus)
Cftr  (cystic fibrosis transmembrane conductance regulator)

Genes (Homo sapiens)
CFTR  (CF transmembrane conductance regulator)


Additional Information