One-step NGS molecular analysis of the CFTR gene on newborn dried blood spots gives a higher diagnostic sensitivity in affected and carrier subjects: A pilot study

Cystic fibrosis is the most common hereditary recessive disease with an incidence of about 1:2500/3000. It has long been known that the disease is caused by deleterious mutations in the CFTR gene. Conventionally, the disease is diagnosed in several phases. The analysis of all the possible disease-ca...

Celý popis

Uložené v:

Podrobná bibliografia
Vydané v:	Clinica chimica acta Ročník 552; s. 117625
Hlavní autori:	Nunziato, Marcella, Starnone, Flavio, Giordano, Sonia, D'Antonio, Marcella, Scognamiglio, Domenico, Esposito, Maria Valeria, Correra, Antonio, Di Maggio, Federica, D'Argenio, Valeria, Luca Scaglione, Giovanni, Castaldo, Giuseppe, Salvatore, Francesco
Médium:	Journal Article
Jazyk:	English
Vydavateľské údaje:	Netherlands 01.01.2024
Predmet:	Cystic Fibrosis - diagnosis Cystic Fibrosis - genetics Cystic Fibrosis Transmembrane Conductance Regulator - genetics Genetic Testing - methods Humans Infant, Newborn Mutation Neonatal Screening - methods Pilot Projects Sensitivity and Specificity Cystic fibrosis Analytical sensitivity increase Guthrie dried blood spot Next generation sequencing One-step newborn screening
ISSN:	0009-8981, 1873-3492, 1873-3492
On-line prístup:	Získať plný text
Tagy:	Pridať tag Žiadne tagy, Buďte prvý, kto otaguje tento záznam!

Abstract	Cystic fibrosis is the most common hereditary recessive disease with an incidence of about 1:2500/3000. It has long been known that the disease is caused by deleterious mutations in the CFTR gene. Conventionally, the disease is diagnosed in several phases. The analysis of all the possible disease-causing molecular alterations is time consuming and may not lead to a definitive diagnosis in several cases. Consequently, we propose, in this paper, a rapid sequencing method that, in a single procedural asset, reveals the presence of small mutations and also the copy number variants (CNVs) from the DNA extracted from the Guthrie Spot. We first sequenced 30 blood spots, then we validated the method on 100 spots that underwent both traditional analyses and this complete NGS sequencing, and lastly, we tested the strategy on patients who normally do not reach the molecular sequencing step because of low level of Immune-Reactive Trypsinogen. Using this procedure, we identified 97 variants in the CFTR gene of our samples and 6 CNVs. Notably, the significant data were obtained in the group of patients with borderline or negative IRT who routinely would not undergo molecular testing. We also identified 6 carriers of "disease-causing" variants. This method is very robust. Indeed, there was a 100% concordance with Sanger sequencing validation, and 6 mutation carriers were identified who normally escaped molecular testing with actual conventional procedure. There were also 3 duplications of almost the entire gene in heterozygosity, which were not seen with traditional methods. Being quick and easy to perform, we suggest that complete sequencing of the CFTR gene, as in this study be considered for all newborns.
AbstractList	Cystic fibrosis is the most common hereditary recessive disease with an incidence of about 1:2500/3000. It has long been known that the disease is caused by deleterious mutations in the CFTR gene. Conventionally, the disease is diagnosed in several phases. The analysis of all the possible disease-causing molecular alterations is time consuming and may not lead to a definitive diagnosis in several cases. Consequently, we propose, in this paper, a rapid sequencing method that, in a single procedural asset, reveals the presence of small mutations and also the copy number variants (CNVs) from the DNA extracted from the Guthrie Spot. We first sequenced 30 blood spots, then we validated the method on 100 spots that underwent both traditional analyses and this complete NGS sequencing, and lastly, we tested the strategy on patients who normally do not reach the molecular sequencing step because of low level of Immune-Reactive Trypsinogen. Using this procedure, we identified 97 variants in the CFTR gene of our samples and 6 CNVs. Notably, the significant data were obtained in the group of patients with borderline or negative IRT who routinely would not undergo molecular testing. We also identified 6 carriers of "disease-causing" variants. This method is very robust. Indeed, there was a 100% concordance with Sanger sequencing validation, and 6 mutation carriers were identified who normally escaped molecular testing with actual conventional procedure. There were also 3 duplications of almost the entire gene in heterozygosity, which were not seen with traditional methods. Being quick and easy to perform, we suggest that complete sequencing of the CFTR gene, as in this study be considered for all newborns. Cystic fibrosis is the most common hereditary recessive disease with an incidence of about 1:2500/3000. It has long been known that the disease is caused by deleterious mutations in the CFTR gene. Conventionally, the disease is diagnosed in several phases. The analysis of all the possible disease-causing molecular alterations is time consuming and may not lead to a definitive diagnosis in several cases. Consequently, we propose, in this paper, a rapid sequencing method that, in a single procedural asset, reveals the presence of small mutations and also the copy number variants (CNVs) from the DNA extracted from the Guthrie Spot.BACKGROUNDCystic fibrosis is the most common hereditary recessive disease with an incidence of about 1:2500/3000. It has long been known that the disease is caused by deleterious mutations in the CFTR gene. Conventionally, the disease is diagnosed in several phases. The analysis of all the possible disease-causing molecular alterations is time consuming and may not lead to a definitive diagnosis in several cases. Consequently, we propose, in this paper, a rapid sequencing method that, in a single procedural asset, reveals the presence of small mutations and also the copy number variants (CNVs) from the DNA extracted from the Guthrie Spot.We first sequenced 30 blood spots, then we validated the method on 100 spots that underwent both traditional analyses and this complete NGS sequencing, and lastly, we tested the strategy on patients who normally do not reach the molecular sequencing step because of low level of Immune-Reactive Trypsinogen.MATERIALS AND METHODSWe first sequenced 30 blood spots, then we validated the method on 100 spots that underwent both traditional analyses and this complete NGS sequencing, and lastly, we tested the strategy on patients who normally do not reach the molecular sequencing step because of low level of Immune-Reactive Trypsinogen.Using this procedure, we identified 97 variants in the CFTR gene of our samples and 6 CNVs. Notably, the significant data were obtained in the group of patients with borderline or negative IRT who routinely would not undergo molecular testing. We also identified 6 carriers of "disease-causing" variants.RESULTSUsing this procedure, we identified 97 variants in the CFTR gene of our samples and 6 CNVs. Notably, the significant data were obtained in the group of patients with borderline or negative IRT who routinely would not undergo molecular testing. We also identified 6 carriers of "disease-causing" variants.This method is very robust. Indeed, there was a 100% concordance with Sanger sequencing validation, and 6 mutation carriers were identified who normally escaped molecular testing with actual conventional procedure. There were also 3 duplications of almost the entire gene in heterozygosity, which were not seen with traditional methods. Being quick and easy to perform, we suggest that complete sequencing of the CFTR gene, as in this study be considered for all newborns.CONCLUSIONThis method is very robust. Indeed, there was a 100% concordance with Sanger sequencing validation, and 6 mutation carriers were identified who normally escaped molecular testing with actual conventional procedure. There were also 3 duplications of almost the entire gene in heterozygosity, which were not seen with traditional methods. Being quick and easy to perform, we suggest that complete sequencing of the CFTR gene, as in this study be considered for all newborns.
ArticleNumber	117625
Author	Di Maggio, Federica Nunziato, Marcella Luca Scaglione, Giovanni Giordano, Sonia Esposito, Maria Valeria Correra, Antonio Starnone, Flavio D'Antonio, Marcella Salvatore, Francesco Scognamiglio, Domenico D'Argenio, Valeria Castaldo, Giuseppe
Author_xml	– sequence: 1 givenname: Marcella orcidid: 0000-0003-1999-4992 surname: Nunziato fullname: Nunziato, Marcella – sequence: 2 givenname: Flavio surname: Starnone fullname: Starnone, Flavio – sequence: 3 givenname: Sonia orcidid: 0000-0003-0608-9467 surname: Giordano fullname: Giordano, Sonia – sequence: 4 givenname: Marcella surname: D'Antonio fullname: D'Antonio, Marcella – sequence: 5 givenname: Domenico surname: Scognamiglio fullname: Scognamiglio, Domenico – sequence: 6 givenname: Maria Valeria orcidid: 0000-0002-3222-1532 surname: Esposito fullname: Esposito, Maria Valeria – sequence: 7 givenname: Antonio orcidid: 0000-0002-4095-2677 surname: Correra fullname: Correra, Antonio – sequence: 8 givenname: Federica orcidid: 0009-0008-5917-1492 surname: Di Maggio fullname: Di Maggio, Federica – sequence: 9 givenname: Valeria orcidid: 0000-0001-9273-3698 surname: D'Argenio fullname: D'Argenio, Valeria – sequence: 10 givenname: Giovanni orcidid: 0000-0001-5622-7843 surname: Luca Scaglione fullname: Luca Scaglione, Giovanni – sequence: 11 givenname: Giuseppe orcidid: 0000-0002-4036-0874 surname: Castaldo fullname: Castaldo, Giuseppe – sequence: 12 givenname: Francesco orcidid: 0000-0002-2346-3564 surname: Salvatore fullname: Salvatore, Francesco
BackLink	https://www.ncbi.nlm.nih.gov/pubmed/37923102$$D View this record in MEDLINE/PubMed
BookMark	eNo9kU1v1DAQhi1URLeFH8AFzZFLtv6IE4dbtWoLUtVKUM6R40x2vcraweMU7e_hj5JqC6fRjJ73Pcxzwc5CDMjYR8HXgovqar92zq4ll2otRF1J_YathKlVocpGnrEV57wpTGPEObsg2i9rySvxjp2rupFKcLlifx4DFpRxgoe7H3CII7p5tAlssOORPEEcIO8QNrdP32GLASEGCPi7iylAnzz20I0x9kBTzARb_4wEFnZ-u8MEvbfbECl7B4SBfPbPPh_BB7DDgC4vaRt6cDYtTQlo7vbLlb7ANUx-jBkoz_3xPXs72JHww-u8ZD9vb542X4v7x7tvm-v7wkmtciF5LbrSSKsbx7UYrJCddU7Xsq5sqRvTNIOqjaux7LTolasqzk01GIe6HAyqS_b51Dul-GtGyu3Bk8NxtAHjTK00ZolIKfSCfnpF5-6AfTslf7Dp2P577AKIE-BSJEo4_EcEb1_ktft2kde-yGtP8tRf5J2OSw
Cites_doi	10.1016/j.jcf.2020.02.015 10.3389/fmed.2022.894358 10.1002/ppul.25778 10.4103/bbrj.bbrj_81_17 10.1016/j.jcf.2018.07.008 10.3390/ijns6010008 10.1016/S0929-693X(20)30044-0 10.3390/ijms18112487 10.1001/jama.2009.1295 10.1515/cclm-2017-0553 10.1016/j.jped.2021.11.007 10.3390/ijns7010001 10.1186/s13052-020-00948-8 10.1007/s00439-020-02122-w 10.1016/j.jcf.2021.04.016 10.1016/j.jcf.2006.05.008 10.1002/ppul.25733 10.1038/gim.2015.30 10.1111/and.14355 10.1038/ng.3466 10.1016/j.jhep.2021.09.042 10.1016/j.jmoldx.2015.11.005 10.1016/j.lpm.2017.04.010 10.1164/rccm.202109-2064TR 10.3389/fphar.2022.1015926 10.3390/ijms23095213 10.3390/diagnostics11101910 10.1002/mgg3.645 10.1186/s12885-021-09074-y 10.1146/annurev-med-042120-020148 10.1002/mgg3.1506 10.1097/01.gim.0000200945.54234.d7 10.3390/jcm10153334
ContentType	Journal Article
Copyright	Copyright © 2023 The Authors. Published by Elsevier B.V. All rights reserved.
Copyright_xml	– notice: Copyright © 2023 The Authors. Published by Elsevier B.V. All rights reserved.
DBID	AAYXX CITATION CGR CUY CVF ECM EIF NPM 7X8
DOI	10.1016/j.cca.2023.117625
DatabaseName	CrossRef Medline MEDLINE MEDLINE (Ovid) MEDLINE MEDLINE PubMed MEDLINE - Academic
DatabaseTitle	CrossRef MEDLINE Medline Complete MEDLINE with Full Text PubMed MEDLINE (Ovid) MEDLINE - Academic
DatabaseTitleList	MEDLINE MEDLINE - Academic
Database_xml	– sequence: 1 dbid: NPM name: PubMed url: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=PubMed sourceTypes: Index Database – sequence: 2 dbid: 7X8 name: MEDLINE - Academic url: https://search.proquest.com/medline sourceTypes: Aggregation Database
DeliveryMethod	fulltext_linktorsrc
Discipline	Medicine Chemistry
EISSN	1873-3492
ExternalDocumentID	37923102 10_1016_j_cca_2023_117625
Genre	Journal Article
GroupedDBID	--- --K --M .55 .GJ .~1 0R~ 1B1 1RT 1~. 1~5 29B 4.4 457 4G. 53G 5GY 5VS 6J9 7-5 71M 8P~ 9DU 9JM AABNK AAEDT AAEDW AAIKJ AAKOC AALRI AAOAW AAQFI AAQXK AATTM AAXKI AAXUO AAYWO AAYXX ABBQC ABDPE ABFNM ABFRF ABGSF ABJNI ABMAC ABMZM ABUDA ABWVN ABXDB ACDAQ ACGFO ACGFS ACIEU ACIUM ACLOT ACRLP ACRPL ACVFH ADBBV ADCNI ADEZE ADMUD ADNMO ADUVX AEBSH AEFWE AEHWI AEIPS AEKER AENEX AEUPX AFJKZ AFPUW AFTJW AFXIZ AGHFR AGQPQ AGRDE AGUBO AGYEJ AHHHB AIEXJ AIGII AIIUN AIKHN AITUG AJRQY AKBMS AKRWK AKYEP ALMA_UNASSIGNED_HOLDINGS AMRAJ ANKPU ANZVX APXCP ASPBG AVWKF AXJTR AZFZN BKOJK BLXMC BNPGV CITATION CS3 DU5 EBS EFJIC EFKBS EFLBG EJD EO8 EO9 EP2 EP3 F5P FDB FEDTE FGOYB FIRID FNPLU FYGXN G-2 G-Q GBLVA HLW HVGLF HZ~ IHE J1W J5H K-O KOM L7B LX3 M41 MO0 N9A O-L O9- OAUVE OZT P-8 P-9 P2P PC. Q38 R2- RNS ROL RPZ SBG SDF SDG SDP SES SEW SPCBC SSH SSU SSZ T5K WH7 WUQ X7M XPP ZGI ~02 ~G- ~HD AGCQF AGRNS CGR CUY CVF ECM EIF NPM 7X8
ID	FETCH-LOGICAL-c253t-2071b482a59c051fa12bacc57276a459899f378c7e4b51d3c660086f8ce54f8e3
ISICitedReferencesCount	0
ISICitedReferencesURI	http://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=Summon&SrcAuth=ProQuest&DestLinkType=CitingArticles&DestApp=WOS_CPL&KeyUT=001121996600001&url=https%3A%2F%2Fcvtisr.summon.serialssolutions.com%2F%23%21%2Fsearch%3Fho%3Df%26include.ft.matches%3Dt%26l%3Dnull%26q%3D
ISSN	0009-8981 1873-3492
IngestDate	Thu Oct 02 10:16:17 EDT 2025 Mon Jul 21 06:06:35 EDT 2025 Sat Nov 29 06:56:31 EST 2025
IsDoiOpenAccess	false
IsOpenAccess	true
IsPeerReviewed	true
IsScholarly	true
Keywords	Cystic fibrosis Analytical sensitivity increase Guthrie dried blood spot Next generation sequencing One-step newborn screening
Language	English
License	Copyright © 2023 The Authors. Published by Elsevier B.V. All rights reserved.
LinkModel	OpenURL
MergedId	FETCHMERGED-LOGICAL-c253t-2071b482a59c051fa12bacc57276a459899f378c7e4b51d3c660086f8ce54f8e3
Notes	ObjectType-Article-1 SourceType-Scholarly Journals-1 ObjectType-Feature-2 content type line 23
ORCID	0000-0003-1999-4992 0000-0003-0608-9467 0000-0001-5622-7843 0009-0008-5917-1492 0000-0001-9273-3698 0000-0002-2346-3564 0000-0002-4036-0874 0000-0002-3222-1532 0000-0002-4095-2677
PMID	37923102
PQID	2886602215
PQPubID	23479
ParticipantIDs	proquest_miscellaneous_2886602215 pubmed_primary_37923102 crossref_primary_10_1016_j_cca_2023_117625
PublicationCentury	2000
PublicationDate	2024-01-00 2024-Jan-01 20240101
PublicationDateYYYYMMDD	2024-01-01
PublicationDate_xml	– month: 01 year: 2024 text: 2024-01-00
PublicationDecade	2020
PublicationPlace	Netherlands
PublicationPlace_xml	– name: Netherlands
PublicationTitle	Clinica chimica acta
PublicationTitleAlternate	Clin Chim Acta
PublicationYear	2024
References	Sui (10.1016/j.cca.2023.117625_b0040) 2022; 13 Brownell (10.1016/j.cca.2023.117625_b0060) 2019; 40 Hantash (10.1016/j.cca.2023.117625_b0205) 2006; 8 Prentice (10.1016/j.cca.2023.117625_b0015) 2022; S1526–0542 Dana (10.1016/j.cca.2023.117625_b0055) 2022; 76 Kapnadak (10.1016/j.cca.2023.117625_b0170) 2020; 19 Polgreen (10.1016/j.cca.2023.117625_b0050) 2022; 73 Bieth (10.1016/j.cca.2023.117625_b0190) 2020; 140 Dransfield (10.1016/j.cca.2023.117625_b0020) 2022; 205 Savant (10.1016/j.cca.2023.117625_b0025) 2021; 57 Bartlett (10.1016/j.cca.2023.117625_b0030) 2009; 302 Zybert (10.1016/j.cca.2023.117625_b0195) 2022; 98 Wickham (10.1016/j.cca.2023.117625_b0150) 2016 Balfour-Lynn (10.1016/j.cca.2023.117625_b0045) 2022; 42 Nayir Buyuksahin (10.1016/j.cca.2023.117625_b0160) 2022; 57 Shenoy (10.1016/j.cca.2023.117625_b0065) 2021; 7 Poore (10.1016/j.cca.2023.117625_b0010) 2022; 21 De Palma (10.1016/j.cca.2023.117625_b0120) 2021; 11 Wajda (10.1016/j.cca.2023.117625_b0095) 2021; 10 D’Argenio (10.1016/j.cca.2023.117625_b0115) 2018; 71 Southern (10.1016/j.cca.2023.117625_b0075) 2007; 6 Bareil (10.1016/j.cca.2023.117625_b0085) 2020; 27 Richards (10.1016/j.cca.2023.117625_b0155) 2015; 17 Nunziato (10.1016/j.cca.2023.117625_b0110) 2017; 18 10.1016/j.cca.2023.117625_b0180 McBennett (10.1016/j.cca.2023.117625_b0035) 2022; 57 Ley (10.1016/j.cca.2023.117625_b0005) 2022; 56–57 Krude (10.1016/j.cca.2023.117625_b0165) 2022; 119 Di Minno (10.1016/j.cca.2023.117625_b0140) 2022; 23 Nunziato (10.1016/j.cca.2023.117625_b0105) 2022; 9 Botti (10.1016/j.cca.2023.117625_b0070) 2021; 47 Mirtajani (10.1016/j.cca.2023.117625_b0090) 2017; 1 Zhou (10.1016/j.cca.2023.117625_b0145) 2016; 48 De Boeck (10.1016/j.cca.2023.117625_b0175) 2017; 46 Lefterova (10.1016/j.cca.2023.117625_b0130) 2016; 18 Bergougnoux (10.1016/j.cca.2023.117625_b0135) 2018 Naz Khan (10.1016/j.cca.2023.117625_b0185) 2022; 27 10.1016/j.cca.2023.117625_b0210 Ma (10.1016/j.cca.2023.117625_b0200) 2020; 8 Travert (10.1016/j.cca.2023.117625_b0080) 2020; 6 Esposito (10.1016/j.cca.2023.117625_b0100) 2022; 22 Dankert-Roelse (10.1016/j.cca.2023.117625_b0125) 2019; 18
References_xml	– year: 2016 ident: 10.1016/j.cca.2023.117625_b0150 – volume: 19 start-page: 344 year: 2020 ident: 10.1016/j.cca.2023.117625_b0170 article-title: Cystic Fibrosis Foundation consensus guidelines for the care of individuals with advanced cystic fibrosis lung disease publication-title: J. Cyst. Fibros. doi: 10.1016/j.jcf.2020.02.015 – volume: 9 year: 2022 ident: 10.1016/j.cca.2023.117625_b0105 article-title: Multi-gene panel testing increases germline predisposing mutations’ detection in a cohort of breast/ovarian cancer patients from Southern Italy publication-title: Front. Med. doi: 10.3389/fmed.2022.894358 – volume: 57 start-page: 403 year: 2022 ident: 10.1016/j.cca.2023.117625_b0160 article-title: Cystic fibrosis newborn screening: Five-year experience from a tertiary care center publication-title: Pediatr. Pulmonol. doi: 10.1002/ppul.25778 – volume: 56–57 year: 2022 ident: 10.1016/j.cca.2023.117625_b0005 article-title: Digestive outcomes in Cystic fibrosis publication-title: Best Pract. Res. Clin. Gastroenterol. – volume: 1 start-page: 105 year: 2017 ident: 10.1016/j.cca.2023.117625_b0090 article-title: Geographical distribution of cystic fibrosis; The past 70 years of data analyzis publication-title: Biomed Biotechnol Res J. doi: 10.4103/bbrj.bbrj_81_17 – volume: 18 start-page: 54 year: 2019 ident: 10.1016/j.cca.2023.117625_b0125 article-title: Newborn blood spot screening for cystic fibrosis with a four-step screening strategy in the Netherlands publication-title: J. Cyst. Fibros. doi: 10.1016/j.jcf.2018.07.008 – volume: 40 start-page: 775 year: 2019 ident: 10.1016/j.cca.2023.117625_b0060 article-title: Growth and Nutrition in Cystic Fibrosis, Semin. Respir publication-title: Crit. Care Med. – volume: 6 year: 2020 ident: 10.1016/j.cca.2023.117625_b0080 article-title: History of newborn screening for cystic fibrosis - The early years publication-title: Int. J. Neonatal Screen. doi: 10.3390/ijns6010008 – volume: 27 start-page: eS8 year: 2020 ident: 10.1016/j.cca.2023.117625_b0085 article-title: CFTR gene variants, epidemiology and molecular pathology publication-title: Arch. Pediatr. doi: 10.1016/S0929-693X(20)30044-0 – volume: 18 year: 2017 ident: 10.1016/j.cca.2023.117625_b0110 article-title: Fast detection of a BRCA2 large genomic duplication by next generation sequencing as a single procedure: A case report publication-title: Int. J. Mol. Sci. doi: 10.3390/ijms18112487 – volume: 27 year: 2022 ident: 10.1016/j.cca.2023.117625_b0185 article-title: CF and male health: Sexual and reproductive health, hypogonadism, and fertility publication-title: J. Clin. Transl. Endocrinol. – volume: 302 start-page: 1076 year: 2009 ident: 10.1016/j.cca.2023.117625_b0030 article-title: Genetic modifiers of liver disease in cystic fibrosis publication-title: JAMA - J. Am. Med. Assoc. doi: 10.1001/jama.2009.1295 – volume: S1526–0542 start-page: 00086 issue: 22 year: 2022 ident: 10.1016/j.cca.2023.117625_b0015 article-title: Cystic fibrosis related diabetes (CFRD) in the era of modulators : A scoping review publication-title: Paediatr. Respir. Rev. – year: 2018 ident: 10.1016/j.cca.2023.117625_b0135 article-title: Multicenter validation study for the certification of a CFTR gene scanning method using next generation sequencing technology publication-title: Clin. Chem. Lab. Med. doi: 10.1515/cclm-2017-0553 – volume: 98 start-page: 419 year: 2022 ident: 10.1016/j.cca.2023.117625_b0195 article-title: Clinical complications in children with false-negative results in cystic fibrosis newborn screening publication-title: J. Pediatr. (Rio J) doi: 10.1016/j.jped.2021.11.007 – volume: 7 start-page: 1 year: 2021 ident: 10.1016/j.cca.2023.117625_b0065 article-title: Newborn screening for cystic fibrosis: Infant and laboratory factors affecting successful sweat test completion publication-title: Int. J. Neonatal Screen. doi: 10.3390/ijns7010001 – volume: 47 start-page: 2 year: 2021 ident: 10.1016/j.cca.2023.117625_b0070 article-title: Cystic fibrosis in Tuscany: evolution of newborn screening strategies over time to the present publication-title: Ital. J. Pediatr. doi: 10.1186/s13052-020-00948-8 – volume: 140 start-page: 59 year: 2020 ident: 10.1016/j.cca.2023.117625_b0190 article-title: Genetics of the congenital absence of the vas deferens publication-title: Hum. Genet. doi: 10.1007/s00439-020-02122-w – volume: 21 start-page: 18 year: 2022 ident: 10.1016/j.cca.2023.117625_b0010 article-title: Cardiovascular complications in cystic fibrosis: A review of the literature publication-title: J. Cyst. Fibros. doi: 10.1016/j.jcf.2021.04.016 – volume: 6 start-page: 57 year: 2007 ident: 10.1016/j.cca.2023.117625_b0075 article-title: A survey of newborn screening for cystic fibrosis in Europe publication-title: J. Cyst. Fibros. doi: 10.1016/j.jcf.2006.05.008 – volume: 57 start-page: S5 year: 2022 ident: 10.1016/j.cca.2023.117625_b0035 article-title: Increasing life expectancy in cystic fibrosis: Advances and challenges publication-title: Pediatr. Pulmonol. doi: 10.1002/ppul.25733 – volume: 17 start-page: 405 year: 2015 ident: 10.1016/j.cca.2023.117625_b0155 article-title: Standards and guidelines for the interpretation of sequence variants: A joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology publication-title: Genet. Med. doi: 10.1038/gim.2015.30 – ident: 10.1016/j.cca.2023.117625_b0180 doi: 10.1111/and.14355 – volume: 48 start-page: 4 year: 2016 ident: 10.1016/j.cca.2023.117625_b0145 article-title: Correspondence to Nature Genetics publication-title: Nat. Genet. doi: 10.1038/ng.3466 – volume: 119 start-page: 306 year: 2022 ident: 10.1016/j.cca.2023.117625_b0165 article-title: Target Diseases for Neonatal Screening in Germany publication-title: Dtsch. Arztebl. Int. – volume: 42 start-page: 29 year: 2022 ident: 10.1016/j.cca.2023.117625_b0045 article-title: Revisiting a diagnosis of cystic fibrosis – Uncertainties and considerations publication-title: Paediatr. Respir. Rev. – volume: 76 start-page: 420 year: 2022 ident: 10.1016/j.cca.2023.117625_b0055 article-title: Cystic fibrosis-related liver disease: Clinical presentations, diagnostic and monitoring approaches in the era of CFTR modulator therapies publication-title: J. Hepatol. doi: 10.1016/j.jhep.2021.09.042 – volume: 18 start-page: 267 year: 2016 ident: 10.1016/j.cca.2023.117625_b0130 article-title: Next-Generation Molecular Testing of Newborn Dried Blood Spots for Cystic Fibrosis publication-title: J. Mol. Diagnostics. doi: 10.1016/j.jmoldx.2015.11.005 – volume: 46 start-page: e97 year: 2017 ident: 10.1016/j.cca.2023.117625_b0175 article-title: The diagnosis of cystic fibrosis publication-title: Press. Medicale. doi: 10.1016/j.lpm.2017.04.010 – volume: 205 start-page: 631 year: 2022 ident: 10.1016/j.cca.2023.117625_b0020 article-title: Cystic Fibrosis Transmembrane Conductance Regulator: Roles in Chronic Obstructive Pulmonary Disease publication-title: Am. J. Respir. Crit. Care Med. doi: 10.1164/rccm.202109-2064TR – volume: 13 start-page: 1 year: 2022 ident: 10.1016/j.cca.2023.117625_b0040 article-title: Gene therapy for cystic fibrosis: Challenges and prospects publication-title: Front. Pharmacol. doi: 10.3389/fphar.2022.1015926 – volume: 71 start-page: 27 year: 2018 ident: 10.1016/j.cca.2023.117625_b0115 article-title: Molecular diagnosis of Brugada syndrome via next-generation sequencing of a multigene panel in a young athlete Diagnosi molecolare di sindrome di Brugada in un publication-title: Med. Dello Sport. – volume: 23 year: 2022 ident: 10.1016/j.cca.2023.117625_b0140 article-title: Challenges in Metabolomics-Based Tests, Biomarkers Revealed by Metabolomic Analysis, and the Promise of the Application of Metabolomics in Precision Medicine publication-title: Int. J. Mol. Sci. doi: 10.3390/ijms23095213 – volume: 11 start-page: 1910 year: 2021 ident: 10.1016/j.cca.2023.117625_b0120 article-title: Comprehensive molecular analysis of DMD gene increases the diagnostic value of dystrophinopathies: A pilot study in a southern Italy cohort of patients publication-title: Diagnostics. doi: 10.3390/diagnostics11101910 – ident: 10.1016/j.cca.2023.117625_b0210 doi: 10.1002/mgg3.645 – volume: 57 start-page: 1590 issue: 2022 year: 2021 ident: 10.1016/j.cca.2023.117625_b0025 article-title: Cystic fibrosis year in review 2021 publication-title: Pediatr Pulmonol. – volume: 22 start-page: 1 year: 2022 ident: 10.1016/j.cca.2023.117625_b0100 article-title: Microbiome composition indicate dysbiosis and lower richness in tumor breast tissues compared to healthy adjacent paired tissue, within the same women publication-title: BMC Cancer doi: 10.1186/s12885-021-09074-y – volume: 73 start-page: 563 year: 2022 ident: 10.1016/j.cca.2023.117625_b0050 article-title: Clinical Phenotypes of Cystic Fibrosis Carriers publication-title: Annu. Rev. Med. doi: 10.1146/annurev-med-042120-020148 – volume: 8 start-page: 1 year: 2020 ident: 10.1016/j.cca.2023.117625_b0200 article-title: Analysis of CNVs of CFTR gene in Chinese Han population with CBAVD publication-title: Mol. Genet. Genomic Med. doi: 10.1002/mgg3.1506 – volume: 8 start-page: 93 year: 2006 ident: 10.1016/j.cca.2023.117625_b0205 article-title: A large deletion in the CFTR gene in CBAVD publication-title: Genet. Med. doi: 10.1097/01.gim.0000200945.54234.d7 – volume: 10 year: 2021 ident: 10.1016/j.cca.2023.117625_b0095 article-title: Application of ngs technology in understanding the pathology of autoimmune diseases publication-title: J. Clin. Med. doi: 10.3390/jcm10153334
SSID	ssj0004061
Score	2.4152753
Snippet	Cystic fibrosis is the most common hereditary recessive disease with an incidence of about 1:2500/3000. It has long been known that the disease is caused by...
SourceID	proquest pubmed crossref
SourceType	Aggregation Database Index Database
StartPage	117625
SubjectTerms	Cystic Fibrosis - diagnosis Cystic Fibrosis - genetics Cystic Fibrosis Transmembrane Conductance Regulator - genetics Genetic Testing - methods Humans Infant, Newborn Mutation Neonatal Screening - methods Pilot Projects Sensitivity and Specificity
Title	One-step NGS molecular analysis of the CFTR gene on newborn dried blood spots gives a higher diagnostic sensitivity in affected and carrier subjects: A pilot study
URI	https://www.ncbi.nlm.nih.gov/pubmed/37923102 https://www.proquest.com/docview/2886602215
Volume	552
WOSCitedRecordID	wos001121996600001&url=https%3A%2F%2Fcvtisr.summon.serialssolutions.com%2F%23%21%2Fsearch%3Fho%3Df%26include.ft.matches%3Dt%26l%3Dnull%26q%3D
hasFullText	1
inHoldings	1
isFullTextHit
isPrint
journalDatabaseRights	– providerCode: PRVESC databaseName: Elsevier SD Freedom Collection Journals 2021 customDbUrl: eissn: 1873-3492 dateEnd: 99991231 omitProxy: false ssIdentifier: ssj0004061 issn: 0009-8981 databaseCode: AIEXJ dateStart: 19950116 isFulltext: true titleUrlDefault: https://www.sciencedirect.com providerName: Elsevier
link	http://cvtisr.summon.serialssolutions.com/2.0.0/link/0/eLvHCXMwtZ1Lb9NAEIBXaYqAC4JCITyqQYILlqP6lV1zi0LLQxAQFJSbtbbX4CrYUR5Vxd_h9_CfmNn1OmmhEj1wsSInWVuez7szs_Ng7AkqwRlXuXSDWCk3RA2eNgn3XZnHYcSljLn2Q355y8djMZnEHzqdXzYX5mTKq0qcnsaz_ypqPIfCptTZS4i7HRRP4GcUOh5R7Hj8J8G_r5SLops545efnO-2-60jN6qPkLI5Ojz6SP2TFW0XoG6NLFROPtcaKQWzO2jvLhfOV12WVjrfTDxIbiLzqMrrgkLfm94TJTUbp8AQlZtEOTnXnfAWq5T8PAuT_z4rp_Vyo6CtLZBgkjMpr5xqF1B5j3atGK-qHwhP3aQV0TZD-x3qyfOqbuKTp1RsoA0mKtGklrqpOMUCle1fXjz1-ZC6Jpd_jti4Pvxww_Vhp_PYFbHp-WKn88hUxG0mZM_D2T7661ph3BbHfWS4T03k--vfnq3LfW69bKMYbYDccYJDJDREYobYYts-j2LRZdvD1weTN-tE3f2BZ1v70X3bbXYdcHjuPs4qShdYP1oLOrrJbjTmCwwNdrdYR1U77NrIdg3cYVffNcEat9lPSyIgidCSCJZEqAtAEoFIBCIR6goaEkGTCJpE0CSCJhEkGBJhTSJskAhlBZZEvFAODYlgSXwOQ9AcgubwDvt8eHA0euU2PUHczI-CJb7p3EtD4csoznA9KaTnpzLLIlTDBzLEZx7HRcBp_gnTyMuDbDAgq70QmYrCQqhgl3UJzXsMRBaILM_DiNwEPIhSX_C4kGgQpKGSUvXYMyuAZGZKvyQXirzHHlsRJfjENbyVqleLxBcC78FH1brH7hrZtcMFXNtX_v3LXOoBu75-GR6y7nK-Uo_YlexkWS7me2yLT8ReA95vs8C_0g
linkProvider	Elsevier
openUrl	ctx_ver=Z39.88-2004&ctx_enc=info%3Aofi%2Fenc%3AUTF-8&rfr_id=info%3Asid%2Fsummon.serialssolutions.com&rft_val_fmt=info%3Aofi%2Ffmt%3Akev%3Amtx%3Ajournal&rft.genre=article&rft.atitle=One-step+NGS+molecular+analysis+of+the+CFTR+gene+on+newborn+dried+blood+spots+gives+a+higher+diagnostic+sensitivity+in+affected+and+carrier+subjects%3A+A+pilot+study&rft.jtitle=Clinica+chimica+acta&rft.au=Nunziato%2C+Marcella&rft.au=Starnone%2C+Flavio&rft.au=Giordano%2C+Sonia&rft.au=D%27Antonio%2C+Marcella&rft.date=2024-01-01&rft.issn=0009-8981&rft.volume=552&rft.spage=117625&rft_id=info:doi/10.1016%2Fj.cca.2023.117625&rft.externalDBID=n%2Fa&rft.externalDocID=10_1016_j_cca_2023_117625
thumbnail_l	http://covers-cdn.summon.serialssolutions.com/index.aspx?isbn=/lc.gif&issn=0009-8981&client=summon
thumbnail_m	http://covers-cdn.summon.serialssolutions.com/index.aspx?isbn=/mc.gif&issn=0009-8981&client=summon
thumbnail_s	http://covers-cdn.summon.serialssolutions.com/index.aspx?isbn=/sc.gif&issn=0009-8981&client=summon