The novel CFTR haplotype E583G/F508del in CFTR-related disorder

Background CFTR-related disorder (CFTR-RD) is a clinical entity associated to complex diagnostic paths and newly upgraded standard of care. In CFTR-RD, CFTR genotyping represents a diagnostic surrogate marker. In case of novel haplotype, the diagnosis could represents an area of concern. We describe...

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Veröffentlicht in:Molecular biology reports 2024-12, Vol.51 (1), p.849-849, Article 849
Hauptverfasser: De Paolis, Elisa, Tilocca, Bruno, Inchingolo, Riccardo, Lombardi, Carla, Perrucci, Alessia, Maneri, Giulia, Roncada, Paola, Varone, Francesco, Luca, Richeldi, Urbani, Andrea, Minucci, Angelo, Santonocito, Concetta
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container_issue 1
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container_title Molecular biology reports
container_volume 51
creator De Paolis, Elisa
Tilocca, Bruno
Inchingolo, Riccardo
Lombardi, Carla
Perrucci, Alessia
Maneri, Giulia
Roncada, Paola
Varone, Francesco
Luca, Richeldi
Urbani, Andrea
Minucci, Angelo
Santonocito, Concetta
description Background CFTR-related disorder (CFTR-RD) is a clinical entity associated to complex diagnostic paths and newly upgraded standard of care. In CFTR-RD, CFTR genotyping represents a diagnostic surrogate marker. In case of novel haplotype, the diagnosis could represents an area of concern. We described the molecular evaluation of the rare CFTR variant E583G identified in trans with the F508del in a novel haplotype. Methods and results An adult woman was referred to our pulmonary unit for persistent respiratory symptoms. CFTR Next Generation Sequencing was performed to evaluate full-gene mutational status. The variant identified was evaluated for its pathogenicity integrating clinical evidences with dedicated bioinformatics analyses. Clinical evaluation of patient matched with a mono-organ CFTR-RD diagnosis. Genotyping revealed the novel CFTR haplotype F508del/E583G. Multiple evidences of a deleterious effect of the CFTR E583G rare variant emerged from the bioinformatics analyses performed. Conclusions Guidelines for CFTR-RD are available with the purpose of harmonizing clinical and molecular investigations. In such context, the identification of novel CFTR haplotype need to a deeper evaluation with a combination of skills. The novel E583G variant could be considered of clinical interest and overall a CFTR-RD Variants of Varying Clinical Consequences.
doi_str_mv 10.1007/s11033-024-09732-x
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In CFTR-RD, CFTR genotyping represents a diagnostic surrogate marker. In case of novel haplotype, the diagnosis could represents an area of concern. We described the molecular evaluation of the rare CFTR variant E583G identified in trans with the F508del in a novel haplotype. Methods and results An adult woman was referred to our pulmonary unit for persistent respiratory symptoms. CFTR Next Generation Sequencing was performed to evaluate full-gene mutational status. The variant identified was evaluated for its pathogenicity integrating clinical evidences with dedicated bioinformatics analyses. Clinical evaluation of patient matched with a mono-organ CFTR-RD diagnosis. Genotyping revealed the novel CFTR haplotype F508del/E583G. Multiple evidences of a deleterious effect of the CFTR E583G rare variant emerged from the bioinformatics analyses performed. Conclusions Guidelines for CFTR-RD are available with the purpose of harmonizing clinical and molecular investigations. In such context, the identification of novel CFTR haplotype need to a deeper evaluation with a combination of skills. The novel E583G variant could be considered of clinical interest and overall a CFTR-RD Variants of Varying Clinical Consequences.</description><identifier>ISSN: 0301-4851</identifier><identifier>ISSN: 1573-4978</identifier><identifier>EISSN: 1573-4978</identifier><identifier>DOI: 10.1007/s11033-024-09732-x</identifier><identifier>PMID: 39052151</identifier><language>eng</language><publisher>Dordrecht: Springer Netherlands</publisher><subject>Adult ; adults ; Animal Anatomy ; Animal Biochemistry ; Bioinformatics ; Biomedical and Life Sciences ; Case Report ; clinical examination ; Cystic Fibrosis - genetics ; Cystic Fibrosis Transmembrane Conductance Regulator - genetics ; Diagnosis ; Female ; Genotype ; Genotyping ; Haplotypes ; Haplotypes - genetics ; High-Throughput Nucleotide Sequencing - methods ; Histology ; Humans ; Life Sciences ; Morphology ; Mutation - genetics ; Next-generation sequencing ; Pathogenicity ; patients ; women</subject><ispartof>Molecular biology reports, 2024-12, Vol.51 (1), p.849-849, Article 849</ispartof><rights>The Author(s) 2024</rights><rights>2024. The Author(s).</rights><rights>Copyright Springer Nature B.V. 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In CFTR-RD, CFTR genotyping represents a diagnostic surrogate marker. In case of novel haplotype, the diagnosis could represents an area of concern. We described the molecular evaluation of the rare CFTR variant E583G identified in trans with the F508del in a novel haplotype. Methods and results An adult woman was referred to our pulmonary unit for persistent respiratory symptoms. CFTR Next Generation Sequencing was performed to evaluate full-gene mutational status. The variant identified was evaluated for its pathogenicity integrating clinical evidences with dedicated bioinformatics analyses. Clinical evaluation of patient matched with a mono-organ CFTR-RD diagnosis. Genotyping revealed the novel CFTR haplotype F508del/E583G. Multiple evidences of a deleterious effect of the CFTR E583G rare variant emerged from the bioinformatics analyses performed. Conclusions Guidelines for CFTR-RD are available with the purpose of harmonizing clinical and molecular investigations. In such context, the identification of novel CFTR haplotype need to a deeper evaluation with a combination of skills. 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In such context, the identification of novel CFTR haplotype need to a deeper evaluation with a combination of skills. The novel E583G variant could be considered of clinical interest and overall a CFTR-RD Variants of Varying Clinical Consequences.</abstract><cop>Dordrecht</cop><pub>Springer Netherlands</pub><pmid>39052151</pmid><doi>10.1007/s11033-024-09732-x</doi><tpages>1</tpages><oa>free_for_read</oa></addata></record>
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subjects Adult
adults
Animal Anatomy
Animal Biochemistry
Bioinformatics
Biomedical and Life Sciences
Case Report
clinical examination
Cystic Fibrosis - genetics
Cystic Fibrosis Transmembrane Conductance Regulator - genetics
Diagnosis
Female
Genotype
Genotyping
Haplotypes
Haplotypes - genetics
High-Throughput Nucleotide Sequencing - methods
Histology
Humans
Life Sciences
Morphology
Mutation - genetics
Next-generation sequencing
Pathogenicity
patients
women
title The novel CFTR haplotype E583G/F508del in CFTR-related disorder
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