Mild cystic fibrosis phenotype in patients with the 3272-26A &gt; G mutation.

Kanavakis, Emmanouel; Tzetis, Maria; Antoniadi, Thalia; Trager-Synodinos, J; Kattamis, Christos; Doudounakis, Stavros; Adam, George

doi:10.1136/jmg.32.5.406

Cited by 8 publications

(9 citation statements)

References 13 publications

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“…Patients with one 3272-26A>G allele and another one in class I-III have less severe clinical manifestations (late diagnosis, better pulmonary function and lower incidence of PA) when compared to patients with two mutations of class I-III. 24 , 25 …”

Section: Discussionmentioning

confidence: 99%

Genetic and phenotypic traits of children and adolescents with cystic fibrosis in Southern Brazil

et al. 2018

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Objectives: To characterize the main identified mutations on cystic fibrosis transmembrane conductance regulator (CFTR) in a group of children and adolescents at a cystic fibrosis center and its association with the clinical and laboratorial characteristics. Method: Descriptive cross-sectional study including patients with cystic fibrosis who had two alleles identified with CFTR mutation. Clinical, anthropometrical, laboratorial and pulmonary function (spirometry) data were collected from patients’ records in charts and described with the results of the sample genotyping. Results: 42 patients with cystic fibrosis were included in the study. The most frequent mutation was F508del, covering 60 alleles (71.4%). The second most common mutation was G542X (six alleles, 7.1%), followed by N1303K and R1162X mutations (both with four alleles each). Three patients (7.14%) presented type III and IV mutations, and 22 patients (52.38%) presented homozygous mutation for F508del. Thirty three patients (78.6%) suffered of pancreatic insufficiency, 26.2% presented meconium ileus, and 16.7%, nutritional deficit. Of the patients in the study, 59.52% would be potential candidates for the use of CFTR-modulating drugs. Conclusions: The mutations of CFTR identified more frequently were F508del and G542X. These are type II and I mutations, respectively. Along with type III, they present a more severe cystic fibrosis phenotype. More than half of the sample (52.38%) presented homozygous mutation for F508del, that is, patients who could be treated with Lumacaftor/Ivacaftor. Approximately 7% of the patients (7.14%) presented type III and IV mutations, therefore becoming candidates for the treatment with Ivacaftor.

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Section: Discussionmentioning

confidence: 99%

Genetic and phenotypic traits of children and adolescents with cystic fibrosis in Southern Brazil

et al. 2018

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“…Previously it was reported that three patients carrying the 3272-26A>G mutation in one of their CFTR alleles had mild CF 7. Another patient with the 3272-26A>G/F508del genotype was reported to have severe CF 8.…”

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confidence: 99%

Cystic fibrosis patients with the 3272-26A>G splicing mutation have milder disease than F508del homozygotes: a large European study

Amaral

2001

Journal of Medical Genetics

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“…Some authors report that nasal polyps and chronic rhinosinusitis are more common. [15][16][17] After a thorough search through the National center for biotechnology information (NCBI) databases on this variant up to October 2019 no comprehensive clinical reports on homozygous patients with this variant have been published so far. We describe 12 year longitudinal clinical data on a homozygous patient with this variant managed in our CF Center.…”

Section: The C3140-26a>g Cftr Variantmentioning

confidence: 99%

The c.3140-26A>G Variant of the CFTR Gene in Homozygous State Causes Mild Cystic Fibrosis – Overview of Longitudinal Clinical Data of the Patient Managed in our CF Center and Review of the Literature

Pirs

Krivec

Podkrajšek

2020

ACSi

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There are over 70.000 patients with cystic fibrosis (CF) in the world and numerous sequence variations in the CFTR gene have been reported but the clinical significance of all of them is still not known. There are currently 195 patients with the c.3140-26A>G (legacy name 3272-26A>G) variant in the CFTR gene listed in the European Cystic Fibrosis Society Patient Registry (ECFSPR) and only 4 are homozygous. We present longitudinal clinical data of one of these patients who is managed in our CF Center at the University Children's Hospital in Ljubljana and compare it with the patient data from the ECFSPR and the CFTR2 database in which additional 3 homozygous patients are described. Moreover, the effect of the detected variant in the described patient was evaluated on the RNA level in nasal epithelial cells. The variant was shown to result in aberrant splicing introducing a frameshift and a premature termination codon while normal transcript was not detected. Alternative spliced mutant transcripts in other tissues or the presence of spliceosome-mediated RNA trans-splicing could explain the mild clinical presentation of patients with this variant in homozygous state.

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Mild cystic fibrosis phenotype in patients with the 3272-26A > G mutation.

Cited by 8 publications

References 13 publications

Genetic and phenotypic traits of children and adolescents with cystic fibrosis in Southern Brazil

Genetic and phenotypic traits of children and adolescents with cystic fibrosis in Southern Brazil

Cystic fibrosis patients with the 3272-26A>G splicing mutation have milder disease than F508del homozygotes: a large European study

The c.3140-26A>G Variant of the CFTR Gene in Homozygous State Causes Mild Cystic Fibrosis – Overview of Longitudinal Clinical Data of the Patient Managed in our CF Center and Review of the Literature

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