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

Rosa, Katiana Murieli da; Lima, Eliandra da Silveira de; Machado, Camila Correia; Rispoli, Thaiane; Silveira, Victória D'Azevedo; Ongaratto, Renata; Comaru, Talitha; Pinto, Leonardo Araújo

doi:10.1590/s1806-37562017000000418

Cited by 2 publications

(2 citation statements)

References 29 publications

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“…The Variant c.3196C>T (R1066C) was observed in our study with 1.01% frequency, wherease it represents CF mutations in Portugal. It is a severe mutation, similar to that observed in patients homozygous for F508del (26).…”

Section: Discussionsupporting

confidence: 66%

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: Discussionsupporting

confidence: 66%

Analysis Variants of the CFTR Gene in Iranian Cystic Fibrosis Patients

Farahzadi¹,

Akbari²

2022

J Human Gen Genom

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“…Knowing the relationship between genotype and phenotype in cystic fibrosis, knowledge of modified genes, and different environmental influences help to gain a greater understanding of the manifestations of infection that may range from mild to severe, which may occur in one or several systems of the body [16].…”

Section: Evaluating the Relationship Between Cf Phenotype And Cftr Genotypementioning

confidence: 99%

A retrospective study of cases diagnosed with cystic fibrosis at a single care center in Syria

Al-Baba

Zetoune

2021

Egypt J Med Hum Genet

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Background Although there is relatively much information about the status of cystic fibrosis disease in different countries of the world, limited data are available on this disease among Syrian children. Therefore, we did a retrospective study that included 173 children diagnosed with cystic fibrosis according to the diagnostic criteria. This study was conducted to determine the diagnostic, clinical, and genetic characteristics of patients with cystic fibrosis in Syria and to assess the relationship between the genotype and the phenotype of disease in these patients. Results As a result of the early classical manifestations, CF diagnosis was established in the present study by the age of 1 year in 78.6%; the mortality rate was 23.1% (82.5% of them were in the first year of life). The prevalence of respiratory and gastrointestinal symptoms was 81.5% and 78.6%, respectively with an average age of 7.8 and 3.4 months. Consanguinity was reported in 75.7% of the families. The most common pathogenic variant in the sample was F508del (36%) followed by W1282X (17%). There was a statistical correlation between incidence of steatorrhea and the presence of class I pathogenic variants. A relationship between the mortality rate and the presence of class II pathogenic variants (pathogenic deletion variants) was also observed. There was no statistical relationship between other clinical manifestation and pathogenic variant classes. However, the incidence of most CF-related conditions was a little higher in the presence of classes I, II, and III pathogenic variants compared to their incidence in the presence of classes IV and V pathogenic variants. Conclusions The number of cases diagnosed with cystic fibrosis in Syria is less than the number of real cases, and there is a need to perform CFTR gene sequencing on large sample sizes, to determine all CFTR pathogenic variants that could exist in Syrian patients and to make a better evaluation of the relationship between genotype and phenotype of the disease.

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

Cited by 2 publications

References 29 publications

Analysis Variants of the CFTR Gene in Iranian Cystic Fibrosis Patients

Analysis Variants of the CFTR Gene in Iranian Cystic Fibrosis Patients

A retrospective study of cases diagnosed with cystic fibrosis at a single care center in Syria

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