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J Pediatr Genet 2020; 09(03): 171-176
DOI: 10.1055/s-0040-1701646
Original Article
Georg Thieme Verlag KG Stuttgart · New York

Molecular Heterogeneity in Cystic Fibrosis

Hasret A. Civan 
1   Department of Pediatric Gastroenterology, Hepatology and Nutrition, Bakırköy Dr. Sadi Konuk Training and Research Hospital, Istanbul, Turkey
,
Serhat Seyhan
2   Department of Medical Genetics, Istanbul Medipol University, Istanbul, Turkey
› Author Affiliations
Further Information

Publication History

17 July 2019

10 January 2020

Publication Date:
17 February 2020 (online)

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Abstract

We aimed to evaluate type, frequency, and variety of pathogenic variants according to clinical and demographic features of children diagnosed with cystic fibrosis (CF). Twenty-five CF patients were evaluated retrospectively. Patients' demographics, physical examination, imaging, laboratory, and molecular pathogenic variant analysis findings were evaluated. Phe508del was the most frequently (33.3%) detected pathogenic variant, followed by point pathogenic variants E92K, 1898 + lGA/7T/7T, and 2789 + 5GA, respectively. Statistically higher rates of pathogenic variants were detected in male patients. The most frequently detected pathogenic variant was Phe508del. The identification of nine additional pathogenic variants of Phe508del revealed the heterogeneous nature of the CF.

Keywords

cystic fibrosis transmembrane conductance regulator - cystic fibrosis - Phe508del

Note

Institutional Review Board protocol approval number: 2019/13; Institutional Review Board protocol approval date: February 2, 2019. Informed consent was obtained from all individual participants included in the study.


 

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