Exploring Turkey's mosaic of novel variants and complex alleles in cystic fibrosis genetics.

Autor: Yıldız CA; Division of Pediatric Pulmonology, Marmara University School of Medicine, Istanbul, Turkey., Selçuk Balcı M; Division of Pediatric Pulmonology, Marmara University School of Medicine, Istanbul, Turkey., Karabulut Ş; Division of Pediatric Pulmonology, Marmara University School of Medicine, Istanbul, Turkey., Başer ZM; Department of Medical Genetics, Marmara University School of Medicine, Istanbul, Turkey., Kalyoncu M; Division of Pediatric Pulmonology, Marmara University School of Medicine, Istanbul, Turkey., Metin Çakar N; Division of Pediatric Pulmonology, Marmara University School of Medicine, Istanbul, Turkey., Akkitap Yiğit MM; Division of Pediatric Pulmonology, Marmara University School of Medicine, Istanbul, Turkey., Baysal EE; Division of Pediatric Pulmonology, Marmara University School of Medicine, Istanbul, Turkey., Özdemircioğlu F; Division of Pediatric Pulmonology, Marmara University School of Medicine, Istanbul, Turkey., Uzunoğlu B; Division of Pediatric Pulmonology, Marmara University School of Medicine, Istanbul, Turkey., Taştan G; Division of Pediatric Pulmonology, Marmara University School of Medicine, Istanbul, Turkey., Ergenekon P; Division of Pediatric Pulmonology, Marmara University School of Medicine, Istanbul, Turkey., Gökdemir Y; Division of Pediatric Pulmonology, Marmara University School of Medicine, Istanbul, Turkey., Erdem Eralp E; Division of Pediatric Pulmonology, Marmara University School of Medicine, Istanbul, Turkey., Karakoç F; Division of Pediatric Pulmonology, Marmara University School of Medicine, Istanbul, Turkey., Ata P; Department of Medical Genetics, Marmara University School of Medicine, Istanbul, Turkey., Karadağ B; Division of Pediatric Pulmonology, Marmara University School of Medicine, Istanbul, Turkey.
Jazyk: angličtina
Zdroj: Pediatric pulmonology [Pediatr Pulmonol] 2024 Dec; Vol. 59 (12), pp. 3540-3549. Date of Electronic Publication: 2024 Sep 18.
DOI: 10.1002/ppul.27249
Abstrakt: Backgrounds: Genetic variants in CF transmembrane conductance regulator (CFTR) gene causes cystic fibrosis (CF), a prevalent autosomal recessive disorder. More than 2000 variants in CFTR have been described as disease causative. This study aims to delineate the genotypic and phenotypic landscape of CF among people with CF (pwCF) followed at the largest CF center in Turkey.
Methods: We conducted a descriptive and retrospective analysis of 481 patients registered with the European CF Society Patient Registry and followed at Marmara University Selim Çöremen CF Center from 2015 onwards. Comprehensive CFTR analysis was utilized for genetic diagnosis. Besides the whole cohort, novel variants and complex alleles were also described.
Results: Our cohort exhibited a broad spectrum of CFTR variants, with 136 different variants detected, indicating substantial genetic diversity. The F508del variant was less prevalent in our cohort compared to US and European averages, which could reflect unique genetic and demographic characteristics of the Turkish population. Additionally, we identified nine novel variants in 12 alleles, which enhances the understanding of CF's genetic complexity in this region, and complex alleles in 32 pwCF.
Conclusion: Our research underscores the heterogeneity of CFTR variants in Turkey and highlights the necessity for extensive genetic profiling particularly for diverse populations to provide effective personalized treatment strategies. It is crucial to understand the full spectrum of CFTR variants with the advent of CFTR modulators.
(© 2024 The Author(s). Pediatric Pulmonology published by Wiley Periodicals LLC.)
Databáze: MEDLINE
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