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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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 |
format | Article |
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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.</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. Dec 2024</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><cites>FETCH-LOGICAL-c403t-8917a70d8c5a8703bb1fb12db786128479577892fae85532591a5c07a8f8efe83</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://link.springer.com/content/pdf/10.1007/s11033-024-09732-x$$EPDF$$P50$$Gspringer$$Hfree_for_read</linktopdf><linktohtml>$$Uhttps://link.springer.com/10.1007/s11033-024-09732-x$$EHTML$$P50$$Gspringer$$Hfree_for_read</linktohtml><link.rule.ids>314,776,780,27901,27902,41464,42533,51294</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/39052151$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>De Paolis, Elisa</creatorcontrib><creatorcontrib>Tilocca, Bruno</creatorcontrib><creatorcontrib>Inchingolo, Riccardo</creatorcontrib><creatorcontrib>Lombardi, Carla</creatorcontrib><creatorcontrib>Perrucci, Alessia</creatorcontrib><creatorcontrib>Maneri, Giulia</creatorcontrib><creatorcontrib>Roncada, Paola</creatorcontrib><creatorcontrib>Varone, Francesco</creatorcontrib><creatorcontrib>Luca, Richeldi</creatorcontrib><creatorcontrib>Urbani, Andrea</creatorcontrib><creatorcontrib>Minucci, Angelo</creatorcontrib><creatorcontrib>Santonocito, Concetta</creatorcontrib><title>The novel CFTR haplotype E583G/F508del in CFTR-related disorder</title><title>Molecular biology reports</title><addtitle>Mol Biol Rep</addtitle><addtitle>Mol Biol Rep</addtitle><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.</description><subject>Adult</subject><subject>adults</subject><subject>Animal Anatomy</subject><subject>Animal Biochemistry</subject><subject>Bioinformatics</subject><subject>Biomedical and Life Sciences</subject><subject>Case Report</subject><subject>clinical examination</subject><subject>Cystic Fibrosis - genetics</subject><subject>Cystic Fibrosis Transmembrane Conductance Regulator - genetics</subject><subject>Diagnosis</subject><subject>Female</subject><subject>Genotype</subject><subject>Genotyping</subject><subject>Haplotypes</subject><subject>Haplotypes - genetics</subject><subject>High-Throughput Nucleotide Sequencing - methods</subject><subject>Histology</subject><subject>Humans</subject><subject>Life Sciences</subject><subject>Morphology</subject><subject>Mutation - genetics</subject><subject>Next-generation sequencing</subject><subject>Pathogenicity</subject><subject>patients</subject><subject>women</subject><issn>0301-4851</issn><issn>1573-4978</issn><issn>1573-4978</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2024</creationdate><recordtype>article</recordtype><sourceid>C6C</sourceid><sourceid>EIF</sourceid><recordid>eNqFkUFLAzEQhYMotlb_gAdZ8OIldmazaZKTSGmrUBCknkN2N2tbtrs16Ur7743dquBBT3N433vDzCPkEuEWAUTfIwJjFOKEghIsptsj0kUuGE2UkMekCwyQJpJjh5x5vwSABAU_JR2mgMfIsUvuZnMbVfW7LaPhePYczc26rDe7tY1GXLJJf8xB5kFcVHudOluajc2jfOFrl1t3Tk4KU3p7cZg98jIezYYPdPo0eRzeT2mWANtQqVAYAbnMuJECWJpikWKcp0IOMJaJUFwIqeLCWMk5i7lCwzMQRhbSFlayHrlpc9eufmus3-jVwme2LE1l68ZrhpwJFAkk_6MQ9gmGg0FAr3-hy7pxVThkT3HFBlIFKm6pzNXeO1votVusjNtpBP3ZhG6b0KEJvW9Cb4Pp6hDdpCubf1u-Xh8A1gI-SNWrdT-7_4j9AMbfjvo</recordid><startdate>20241201</startdate><enddate>20241201</enddate><creator>De Paolis, Elisa</creator><creator>Tilocca, Bruno</creator><creator>Inchingolo, Riccardo</creator><creator>Lombardi, Carla</creator><creator>Perrucci, Alessia</creator><creator>Maneri, Giulia</creator><creator>Roncada, Paola</creator><creator>Varone, Francesco</creator><creator>Luca, Richeldi</creator><creator>Urbani, Andrea</creator><creator>Minucci, Angelo</creator><creator>Santonocito, Concetta</creator><general>Springer Netherlands</general><general>Springer Nature B.V</general><scope>C6C</scope><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>7TK</scope><scope>7TM</scope><scope>8FD</scope><scope>FR3</scope><scope>K9.</scope><scope>P64</scope><scope>RC3</scope><scope>7X8</scope><scope>7S9</scope><scope>L.6</scope></search><sort><creationdate>20241201</creationdate><title>The novel CFTR haplotype E583G/F508del in CFTR-related disorder</title><author>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</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c403t-8917a70d8c5a8703bb1fb12db786128479577892fae85532591a5c07a8f8efe83</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2024</creationdate><topic>Adult</topic><topic>adults</topic><topic>Animal Anatomy</topic><topic>Animal Biochemistry</topic><topic>Bioinformatics</topic><topic>Biomedical and Life Sciences</topic><topic>Case Report</topic><topic>clinical examination</topic><topic>Cystic Fibrosis - genetics</topic><topic>Cystic Fibrosis Transmembrane Conductance Regulator - genetics</topic><topic>Diagnosis</topic><topic>Female</topic><topic>Genotype</topic><topic>Genotyping</topic><topic>Haplotypes</topic><topic>Haplotypes - genetics</topic><topic>High-Throughput Nucleotide Sequencing - methods</topic><topic>Histology</topic><topic>Humans</topic><topic>Life Sciences</topic><topic>Morphology</topic><topic>Mutation - genetics</topic><topic>Next-generation sequencing</topic><topic>Pathogenicity</topic><topic>patients</topic><topic>women</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>De Paolis, Elisa</creatorcontrib><creatorcontrib>Tilocca, Bruno</creatorcontrib><creatorcontrib>Inchingolo, Riccardo</creatorcontrib><creatorcontrib>Lombardi, Carla</creatorcontrib><creatorcontrib>Perrucci, Alessia</creatorcontrib><creatorcontrib>Maneri, Giulia</creatorcontrib><creatorcontrib>Roncada, Paola</creatorcontrib><creatorcontrib>Varone, Francesco</creatorcontrib><creatorcontrib>Luca, Richeldi</creatorcontrib><creatorcontrib>Urbani, Andrea</creatorcontrib><creatorcontrib>Minucci, Angelo</creatorcontrib><creatorcontrib>Santonocito, Concetta</creatorcontrib><collection>Springer Nature OA Free Journals</collection><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>Neurosciences Abstracts</collection><collection>Nucleic Acids Abstracts</collection><collection>Technology Research Database</collection><collection>Engineering Research Database</collection><collection>ProQuest Health & Medical Complete (Alumni)</collection><collection>Biotechnology and BioEngineering Abstracts</collection><collection>Genetics Abstracts</collection><collection>MEDLINE - Academic</collection><collection>AGRICOLA</collection><collection>AGRICOLA - Academic</collection><jtitle>Molecular biology reports</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>De Paolis, Elisa</au><au>Tilocca, Bruno</au><au>Inchingolo, Riccardo</au><au>Lombardi, Carla</au><au>Perrucci, Alessia</au><au>Maneri, Giulia</au><au>Roncada, Paola</au><au>Varone, Francesco</au><au>Luca, Richeldi</au><au>Urbani, Andrea</au><au>Minucci, Angelo</au><au>Santonocito, Concetta</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>The novel CFTR haplotype E583G/F508del in CFTR-related disorder</atitle><jtitle>Molecular biology reports</jtitle><stitle>Mol Biol Rep</stitle><addtitle>Mol Biol Rep</addtitle><date>2024-12-01</date><risdate>2024</risdate><volume>51</volume><issue>1</issue><spage>849</spage><epage>849</epage><pages>849-849</pages><artnum>849</artnum><issn>0301-4851</issn><issn>1573-4978</issn><eissn>1573-4978</eissn><abstract>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.</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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source | MEDLINE; SpringerLink Journals |
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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