Co-segregation of the c.489+3A>G variant with p.Cys1400Ter pathogenic CFTR mutation in Cyprus: prevalence and clinical implications

The intronic c.489+3A>G variant co-segregates extensively with p.Cys1400Ter in Cyprus as an ancestral combination due to a possible founder effect. Before providing genetic counselling to subjects identified through population screening to harbour the c.489+3A>G variant, extensive analysis of CFTR including gene rearrangements should be performed to identify possible other mutations in cis, especially in Mediterranean countries where this complex allele is probably common. Further research is warranted to fully delineate the clinical implications of the in cis co-segregation of p.Cys1400Ter with c.489+3A>G, even in the absence of pathogenic variants in the other CFTR allele.

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Publication Details

Journal
Orphanet Journal of Rare Diseases
Published
2025-04-29
DOI
https://doi.org/10.1186/s13023-025-03714-3
Primary Topic
Cystic Fibrosis Research Advances
Type
article
Field-Weighted Citation Impact
0.00

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article

Co-segregation of the c.489+3A>G variant with p.Cys1400Ter pathogenic CFTR mutation in Cyprus: prevalence and clinical implications

Pinelopi Anagnostopoulou, Panayiotis Κouis, Panayiotis K. Yiallouros, Leonidas A. Phylactou et al.
Orphanet Journal of Rare Diseases
Cystic Fibrosis Research Advances
article

Co-segregation of the c.489+3A>G variant with p.Cys1400Ter pathogenic CFTR mutation in Cyprus: prevalence and clinical implications

Pinelopi Anagnostopoulou, Panayiotis Κouis, Panayiotis K. Yiallouros, Leonidas A. Phylactou, Andreas Μ. Matthaiou, Pavlos Fanis, Constantina Costi, Phivos Ioannou, Tonia Adamidi, Vassos Neocleous, George Christopoulos
article en

Abstract

The intronic c.489+3A>G variant co-segregates extensively with p.Cys1400Ter in Cyprus as an ancestral combination due to a possible founder effect. Before providing genetic counselling to subjects identified through population screening to harbour the c.489+3A>G variant, extensive analysis of CFTR including gene rearrangements should be performed to identify possible other mutations in cis, especially in Mediterranean countries where this complex allele is probably common. Further research is warranted to fully delineate the clinical implications of the in cis co-segregation of p.Cys1400Ter with c.489+3A>G, even in the absence of pathogenic variants in the other CFTR allele.

Orphanet Journal of Rare DiseasesVol. 20(1)
Nicosia General Hospital (CY), University of Cyprus (CY), Archbishop Makarios III Hospital (CY), Cyprus Institute of Neurology and Genetics (CY)
University of Cyprus
Partnerships for the goals
Openalex Percentile: Top 86%
Cystic Fibrosis Research Advances
DOIOpen Access PDFOpenAlex
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Co-segregation of the c.489+3A>G variant with p.Cys1400Ter pathogenic CFTR mutation in Cyprus: prevalence and clinical implications — Pinelopi Anagnostopoulou, Panayiotis Κouis, et al. · Orphanet Journal of Rare Diseases (2025) | TGRS Research Map | TGRS