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Tytuł:
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Things come in threes: A new complex allele and a novel deletion within the CFTR gene complicate an accurate diagnosis of cystic fibrosis.
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Autorzy:
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Persico I; Department of Medical Sciences, University of Trieste, Trieste, Italy.
Feresin A; Department of Medical Sciences, University of Trieste, Trieste, Italy.
Faleschini M; Institute for Maternal and Child Health - IRCCS Burlo Garofolo, Trieste, Italy.
Fontana G; Institute for Maternal and Child Health - IRCCS Burlo Garofolo, Trieste, Italy.
Sirchia F; Institute for Maternal and Child Health - IRCCS Burlo Garofolo, Trieste, Italy.
Faletra F; Institute for Maternal and Child Health - IRCCS Burlo Garofolo, Trieste, Italy.
La Bianca M; Institute for Maternal and Child Health - IRCCS Burlo Garofolo, Trieste, Italy.
Suergiu S; Institute for Maternal and Child Health - IRCCS Burlo Garofolo, Trieste, Italy.
Morgutti M; Institute for Maternal and Child Health - IRCCS Burlo Garofolo, Trieste, Italy.
Maschio M; Institute for Maternal and Child Health - IRCCS Burlo Garofolo, Trieste, Italy.
D'Adamo AP; Department of Medical Sciences, University of Trieste, Trieste, Italy.
Raraigh KS; McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.
Savoia A; Department of Medical Sciences, University of Trieste, Trieste, Italy.; Institute for Maternal and Child Health - IRCCS Burlo Garofolo, Trieste, Italy.
Bottega R; Institute for Maternal and Child Health - IRCCS Burlo Garofolo, Trieste, Italy.
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Źródło:
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Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2022 Jun; Vol. 10 (6), pp. e1926. Date of Electronic Publication: 2022 Mar 29.
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Typ publikacji:
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Journal Article; Research Support, Non-U.S. Gov't
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Język:
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English
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Imprint Name(s):
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Original Publication: [Hoboken, NJ] : John Wiley & Sons, [2013]-
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MeSH Terms:
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Cystic Fibrosis*/diagnosis
Cystic Fibrosis*/genetics
Alleles ; Cystic Fibrosis Transmembrane Conductance Regulator/genetics ; Humans ; Mutation ; Phenotype
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References:
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Genet Med. 2010 Sep;12(9):548-55. (PMID: 20706124)
Pediatr Surg Int. 2006 Mar;22(3):236-9. (PMID: 16395608)
Mol Genet Genomic Med. 2022 Jun;10(6):e1926. (PMID: 35348309)
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Hum Mutat. 2018 Apr;39(4):506-514. (PMID: 29271547)
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Contributed Indexing:
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Keywords: CFTR gene; complex allele; cystic fibrosis; deletion; molecular diagnosis
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Substance Nomenclature:
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0 (CFTR protein, human)
126880-72-6 (Cystic Fibrosis Transmembrane Conductance Regulator)
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Entry Date(s):
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Date Created: 20220329 Date Completed: 20220613 Latest Revision: 20220716
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Update Code:
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20240104
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PubMed Central ID:
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PMC9184661
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DOI:
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10.1002/mgg3.1926
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PMID:
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35348309
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Background: Despite consolidated guidelines, the clinical diagnosis and prognosis of cystic fibrosis (CF) is still challenging mainly because of the extensive phenotypic heterogeneity and the high number of CFTR variants, including their combinations as complex alleles.
Results: We report a family with a complicated syndromic phenotype, which led to the suspicion not only of CF, but of a dominantly inherited skeletal dysplasia (SD). Whereas the molecular basis of the SD was not clarified, segregation analysis was central to make a correct molecular diagnosis of CF, as it allowed to identify three CFTR variants encompassing two known maternal mutations and a novel paternal microdeletion.
Conclusion: This case well illustrates possible pitfalls in the clinical and molecular diagnosis of CF; presence of complex phenotypes deflecting clinicians from appropriate CF recognition, and/or identification of two mutations assumed to be in trans but with an unconfirmed status, which underline the importance of an in-depth molecular CFTR analysis.
(© 2022 The Authors. Molecular Genetics & Genomic Medicine published by Wiley Periodicals LLC.)
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