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Cystic fibrosis or not? Familial occurrence of a rare mutation in the CFTR gene
open access
Abstract
Cystic fibrosis is a monogenic disease caused by a mutation in the CFTR gene. The classic presentation of the disease includes chronic bronchopulmonary symptoms. However, abnormalities in this gene may also be manifested by other phenotypes, so-called CFTR-related disorders. This is a group of entities including disseminated bronchiectasis, congenital bilateral absence of vas deferens, and chronic pancreatitis. In this article, we present a family with a rare F1052V mutation and a polymorphic variant of IVS-5T+11TG. No classical form of the disease was observed in any of the persons affected by the above changes. Results of special investigations are also not typical, which hinders unequivocal diagnosis.
Abstract
Cystic fibrosis is a monogenic disease caused by a mutation in the CFTR gene. The classic presentation of the disease includes chronic bronchopulmonary symptoms. However, abnormalities in this gene may also be manifested by other phenotypes, so-called CFTR-related disorders. This is a group of entities including disseminated bronchiectasis, congenital bilateral absence of vas deferens, and chronic pancreatitis. In this article, we present a family with a rare F1052V mutation and a polymorphic variant of IVS-5T+11TG. No classical form of the disease was observed in any of the persons affected by the above changes. Results of special investigations are also not typical, which hinders unequivocal diagnosis.
Keywords
cystic fibrosis; genes; mutation
About this articleTitle
Cystic fibrosis or not? Familial occurrence of a rare mutation in the CFTR gene
Journal
Advances in Respiratory Medicine
Issue
Article type
Case report
Pages
612-614
Published online
2020-10-30
DOI
10.5603/ARM.a2020.0142
Pubmed
Bibliographic record
Adv Respir Med 2020;88(6):612-614.
Keywords
cystic fibrosis
genes
mutation
Authors
Paweł Zapolnik
Beata Zapolnik
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