Spectrum of <i>CFTR</i> Gene Mutations in Iranian Azeri Turkish Patients with Cystic Fibrosis

Bonyadi, Mortaza; Omrani, Omid; Rafeey, Mandana; Bilan, Nemat

doi:10.1089/gtmb.2010.0091

Cited by 25 publications

(16 citation statements)

References 19 publications

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“…The second most common mutation in our population was 1677delTA (c.1545‐1546delTA) with a frequency of 6.4%. Bonyadi et al reported a 5.97% frequency for the 1677delTA mutation, which was also the second most common in the Azeri Turkish population. Another study among Turkish and North African patients living in Europe evaluated the frequency of CF mutations and 1677delTA was more frequent than other mutations reported in other European studies.…”

Section: Discussionmentioning

confidence: 95%

“…The mutations N1303K, and 2789 + 5G‐ > A, 2183AA‐ > G were identified among the countries participating the ECFS registry but most frequently in Turkey. It was encountered frequently in neighboring countries like Iran (2.5%), Syria (2%), and in Israeli Arab CF patients (4.5%) . The incidence of this mutation is higher in African countries and it was the second most common mutation in a study from Ethiopia (10%) …”

Section: Discussionmentioning

confidence: 99%

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Novel mutations and deletions in cystic fibrosis in a tertiary cystic fibrosis center in Istanbul

Atağ

İkizoğlu

Ergenekon

et al. 2019

Pediatric Pulmonology

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Background Cystic fibrosis (CF) genotyping has garnered increased attention since the discovery of the cystic fibrosis transmembrane conductance regulator (CFTR) gene in 1989 led to the identification of over 1700 mutations on chromosome 7. Yet, little is known about the genetic profile of CF patients in Turkey. This study sought to determine the mutation distribution among CF patients seeking care at Marmara University. Methods Two hundred fifty previously diagnosed CF patients were included in the study. CFTR gene exons 1 to 27 were amplified by a polymerase chain reaction and whole DNA sequencing was performed. Duplications and deletions were investigated by the multiplex ligation‐dependent probe amplification (MLPA) technique in patients with one or two unidentified mutations in sequence analysis. Results CFTR mutation analysis revealed 80 mutations and five large deletions were present in our study population. The five most common mutations were (delta) F508 (c.1521‐1523delCTT) (28.4%), 1677delTA (c.1545‐1546delTA) (6.4%), 2789 + 5G‐ > A (c.2657 + 5G > A) (5.8%), N1303K (c.3909C > G) (2.4%), and c.2183AA‐ > G (c.2051‐2052delAAinsG) (4.0%). Large deletions were found in 16 patients. Four novel mutations and two novel deletions were detected in this study. Conclusions We have identified four novel mutations and two novel deletions using next‐generation DNA sequencing and the MLPA technique and obtained an overall mutation detection rate of 91.4%. Detection of novel variants in CF patients will assist in genetic counseling and in determining appropriate patients for new therapies.

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Section: Discussionmentioning

confidence: 95%

Section: Discussionmentioning

confidence: 99%

Novel mutations and deletions in cystic fibrosis in a tertiary cystic fibrosis center in Istanbul

Atağ

İkizoğlu

Ergenekon

et al. 2019

Pediatric Pulmonology

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“…The Middle East has the highest CFTR heterogeneity, that analysis and diagnosis can be difficult [4].…”

Section: Discussionmentioning

confidence: 99%

“…This study was done on Azeri Turks who are one the largest ethnic groups in Iran [4], and Tabriz is the second biggest city in Iran. Data was acquired from medical records by censes method.…”

Section: Methodsmentioning

confidence: 99%

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2017

Russ. Open Med. J.

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Abstract:Objective -This study was designed to analyze the genetic pattern of cystic fibrosis and effects on age, sex and mortality in the Azeri Turkish population in Iran. Material and Methods -This study was a descriptive study that was conducted for cystic fibrosis patients in Azeri Turkish population in Iran from 2001 to 2014. Of 331 patients, the spectrum of cystic fibrosis transmembrane conductance regulator (CFTR) mutations in 263 patients was reviewed. Demographic and genetic data of patients were summarized by descriptive analysis as frequency, percentage, mean and median. Results -The frequency consanguineous marriages was 196 (59.2%) positive and 135 (40.8%) negative with a significant difference (P=0.001). We identified 32 known mutations and 74 kinds of genotypes. The most common mutation and genotype were ∆F508 138 (26.2%) and ∆F508/ ∆F508 41 (15.5%), respectively. The most mortality rate had observed in ∆F508 genotypes. Conclusion -These findings indicate high frequency of consanguinity marriage in this area. A low frequency of the ∆F508 mutation and detection 32 mutations reflect a heterogeneous spectrum of the mutations in this ethnic group. Further examinations are necessary on CFTR gene and affect these items on on age, sex and mortality.

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Beyond the 10%: Unraveling the genetic diversity in Turkish cystic fibrosis patients not eligible for CFTR modulators

Yıldız,

Selçuk Balcı,

Karabulut

et al. 2024

Pediatric Pulmonology

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BackgroundCystic fibrosis (CF) is an autosomal recessive disease caused by variants of CFTR gene. Over 2000 variants have been identified, and new drugs called CFTR modulators have been developed to target specific defects in the CFTR protein. However, these drugs are only suitable for patients with certain variants of CFTR, and eligibility rates vary depending on race and geographical region. This study aimed to reveal the detailed genotype and clinical characteristics of people with CF (pwCF) at our center in Turkey, a developing country, who are not eligible for CFTR modulators.MethodsA total of 445 pwCF followed up at Marmara University were reviewed retrospectively. Variants of the patients ineligible to CFTR modulators were classified based on American College of Medical Genetics guidelines, CFTR classification, the change in the encoded protein, and the variant type.ResultsThe study revealed that 139 (31.2%) patients weren't eligible for CFTR modulators. There were 60 different variants in the 276 alleles, as two were missing. The majority of patients had missense or nonsense variants, and that the most common variant was c.1545_1546del, which can be said unique to this geography.ConclusionThe study highlights the importance of detecting the variants of ineligible patients in detail to guide future approaches for more targeted and effective interventions in CF care. Testing the effectiveness of CFTR modulators for rare or newly occurring variants is crucial to ensure equal access for pwCF to these therapies from different racial backgrounds and ethnic minorities.

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Spectrum of CFTR Gene Mutations in Iranian Azeri Turkish Patients with Cystic Fibrosis

Abstract: Low frequency of deltaF508 mutation and detection of one novel and 16 known mutations reflect a heterogeneous spectrum of the mutations in this ethnic group.

Cited by 25 publications

References 19 publications

Novel mutations and deletions in cystic fibrosis in a tertiary cystic fibrosis center in Istanbul

Novel mutations and deletions in cystic fibrosis in a tertiary cystic fibrosis center in Istanbul

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Beyond the 10%: Unraveling the genetic diversity in Turkish cystic fibrosis patients not eligible for CFTR modulators

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