Common mutations in cuban cystic fibrosis patients

Collazo, Teresa; Bofill, Alex; Clark, Yulia; Hernández, Yadira; Gómez, Manuel; Rodríguez, Fidel; Ramos, María D.; Giménez, Joaquím; Casals, Teresa; Rojo, M.

doi:10.1016/j.jcf.2008.09.004

Cited by 12 publications

(8 citation statements)

References 15 publications

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“…This variant is a prevalent CF causing mutation among CF patients of east Mediterranean countries such as Crete, Spain, France, Cuba and Mediterranean France (12)(13)(14)(15). Moreover, the variant c.1000C>T has been reported in Brazil, Latin America, Po-land, Greece, Romania, Germany, Czechs, and Ukraine (16)(17)(18)(19)(20).…”

Section: Discussionmentioning

confidence: 99%

Analysis Variants of the CFTR Gene in Iranian Cystic Fibrosis Patients

Farahzadi¹,

Akbari²

2022

J Human Gen Genom

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Background: Cystic fibrosis (CF) is known as one of the most common autosomal recessive disorders, which is caused by mucosal glands. A deficiency in the cystic fibrosis transmembrane conductance regulator gene (CFTR), which encodes a chloride channel, triggers damage to epithelial cells in respiratory ducts, pancreas, intestine, genital ducts in males, liver system, and sweat glands Objectives: The aim of this study was to complete sequencing of the 27 exons of the CFTR gene to screen the spectrum of the variants in patients from all over Iran from different ethnicities. Methods: This is a descriptive-analytical study that was performed during eleven years from 2010 to 2021. 345 patients were referred to Tehran Medical Genetics Laboratory by specialists. These patients were categorized into four groups. The first group included clinically confirmed patients of CF, having clinical features and biochemical abnormalities, plus positive sweat chloride test. The second group included couples with an alive or deceased child affected. The third group included CBAVD (congenital bilateral absence of the vas deferens) cases, and the fourth group included prenatal diagnosis who looking for carrier detection or her spouse is affected with CBAVD. Results: Fifty-four variants and five deletions were found from 345 patients, the most common frequent variant were c.1521_1523delCTT ([delta]F508) (47 (6.81%)), c.1000C>T (R334W, 31 (4.45%)), c.1911delG (2043delG, 25 (3.62%)), c.2051_2052delAAinsG (2183AA->G, 15 (2.17%)), c.1624G>T (G542X, 12 (1.74%)), c.1697C>A (A566D, 12 (1.74%)), c.1210-12T [5] (9(1.30%)) and c.3196C>T (R1066C,7 (1.01%)) respectively and frequency of other variants were less than 1%. Deletion in some exons was established by MLPA assay, the most common deletion was c. (53+1_54-1) _ (164+1_165-1) del (CFTRdele2, 7 (1.01%)). Conclusions: In conclusion, the present study improves the knowledge of CF in Iran with respect to carrier analysis, and genetic counselling. Also, it helps to develop a cost-effective newborn screening program.

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Section: Discussionmentioning

confidence: 99%

Analysis Variants of the CFTR Gene in Iranian Cystic Fibrosis Patients

Farahzadi¹,

Akbari²

2022

J Human Gen Genom

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“…Karimi et al reported that the frequency of the c.1000 C>T mutation is as high as 40% in the CF patients from western Iran, whereas delF508 is observed only in 18% of their cases ( Karimi et al, 2018 ). It is suggested that this mutation has multiple unrelated origins ( Morral et al, 1994 ) and has been reported in distinct populations ( Estivill et al, 1997 ; des Georges et al, 2004 ; Chevalier-Porst et al, 1994 ; Collazo et al, 2009 ; Lay-Son et al, 2011 ), with a considerable incidence in Southern Europe and Latin America ( Pérez et al, 2007 ; Castellani et al, 2008 ). c.1000C>T is not a frequent mutation except in Brazilians (frequency of 2.64%) ( Pereira et al, 2019 ) and ethnic Russians (0.69%) ( Petrova et al, 2020 ).…”

Section: Discussionmentioning

confidence: 99%

Genetic attributes of Iranian cystic fibrosis patients: the diagnostic efficiency of CFTR mutations in over a decade

Hosseini Nami,

Kabiri,

Zafarghandi Motlagh

et al. 2023

Front. Genet.

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Objectives: Cystic fibrosis (CF) is the most prevalent autosomal recessive disorder among Caucasians. Mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene cause this pathology. We, therefore, aimed to describe the CFTR mutations and their geographical distribution in Iran.Method: The mutation spectrum for 87 families from all Iranian ethnicities was collected using ARMS PCR, Sanger sequencing, and MLPA.Results: Mutations were identified in 95.8% of cases. This dataset revealed that the most frequent mutations in the Iranian population were F508del, c.1000C>T, c.1397C>G, c.1911delG, and c.1393-1G>A. In addition, we found weak evidence for Turkey being the possible geographical pathway for introducing CFTR mutations into Iran by mapping the frequency of CFTR mutations.Conclusion: Our descriptive results will facilitate the genetic detection and prenatal diagnosis of cystic fibrosis within the Iranian population.

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“…The distribution of mutations appears to be specific to race and/or ethnic origin (Collazo et al, 2009), with the dominant ∆F508/∆F508 homozygous mutation accounting for 27% of the Italian CF population compared to at least 50% in Northern Europe and the United States (Bossi et al, 2004). There is no evidence of the ∆F508 mutation in the Japanese CF population (Yamashiro et al, 1997).…”

Section: Mutationsmentioning

confidence: 95%

A qualitative study of cystic fibrosis (CF) patients' expectations of gene therapy

Jannetta¹,

Cochrane²,

Morris³

et al. 2010

Journal of Cystic Fibrosis

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This thesis has been submitted in fulfilment of the requirements for a postgraduate degree (e.g. PhD, MPhil, DClinPsychol) at the University of Edinburgh. Please note the following terms and conditions of use: • This work is protected by copyright and other intellectual property rights, which are retained by the thesis author, unless otherwise stated. • A copy can be downloaded for personal non-commercial research or study, without prior permission or charge. • This thesis cannot be reproduced or quoted extensively from without first obtaining permission in writing from the author. • The content must not be changed in any way or sold commercially in any format or medium without the formal permission of the author. • When referring to this work, full bibliographic details including the author, title, awarding institution and date of the thesis must be given.

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Common mutations in cuban cystic fibrosis patients

Cited by 12 publications

References 15 publications

Analysis Variants of the CFTR Gene in Iranian Cystic Fibrosis Patients

Analysis Variants of the CFTR Gene in Iranian Cystic Fibrosis Patients

Genetic attributes of Iranian cystic fibrosis patients: the diagnostic efficiency of CFTR mutations in over a decade

A qualitative study of cystic fibrosis (CF) patients' expectations of gene therapy

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