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Analysis of rearrangements of the CFTR gene in patients from Turkey with CFTR-related disorders: frequent exon 2 deletion

Journal of Human Genetics volume 66, pages 315–320 (2021)Cite this article

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Abstract

Cystic fibrosis is a hereditary disease that mostly affects the sweat glands, respiratory system, digestive system, and reproductive system. Many and various types of mutations have been reported in CFTR in different ethnicities and countries/regions. Analysis of CFTR gene rearrangements is recommended in patients with unidentified mutated alleles in CFTR sequencing analysis. We collected MLPA analyses of 527 patients from Turkey who had at least one unidentified mutation in CFTR sequence analysis. Heterozygous/homozygous deletions were detected in the CFTR gene in 49 individuals (9.2%) from 35 families. Twelve different single/multi exon deletions were demonstrated, two of which were not previously reported in the literature. Mutations have previously reported in patients from various regions including Asia, Europe, and Africa, and Turkey is located at a crossroads between them. The most frequent mutation was the exon 2 deletion, accounting for 60%. Moreover, patients with exon 2 deletions, were especially originated from northern Turkey. This finding is valuable in leading and shaping planned screening programs in Turkey. Our study, the most comprehensive study for rearrangement analysis in patients from Tukey, revealed a candidate hotspot region of patients suspected of having CFTR-related disorders from Turkey.

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Acknowledgements

We thank the staff of the Genetic Diagnostic Center of Haseki Training and Research Hospital for their collaboration and Esranur Kucuktepe for her efforts in the validation of the experiments.

Funding

The authors received no financial support for the research, authorship, and/or publication of this article.

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Authors and Affiliations

  1. Department of Medical Genetics, Haseki Training and Research Hospital, Health Sciences University, Istanbul, Turkey

    Mehmet Bugrahan Duz & Pelin Ozyavuz Cubuk

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  1. Mehmet Bugrahan Duz
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  2. Pelin Ozyavuz Cubuk
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Contributions

MBD: Investigation, Formal analysis, Writing – original draft, Writing - review & editing, Project administration, Resources, and Supervision, POC: Investigation, Formal analysis, Methodology, and Writing.

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Correspondence to Mehmet Bugrahan Duz.

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The authors declare that they have no conflict of interest.

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The study protocol was conducted in accordance with the Declaration of Helsinki (1964) and was approved by ethics committee of Haseki Training and Research Hospital (ID:2020-76). Consent forms were obtained from all patients.

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Duz, M.B., Ozyavuz Cubuk, P. Analysis of rearrangements of the CFTR gene in patients from Turkey with CFTR-related disorders: frequent exon 2 deletion. J Hum Genet 66, 315–320 (2021). https://doi.org/10.1038/s10038-020-00859-w

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