Genotype–Phenotype Correlation in a Family with Brugada Syndrome Harboring the Novel p.Gln371* Nonsense Variant in the <em<SCN5A</em< Gene

Brugada syndrome (BrS) is marked by coved ST-segment elevation and increased risk of sudden cardiac death. The genetics of this syndrome are elusive in over half of the cases. Variants in the <i<SCN5A</i< gene are the single most common known genetic unifier, accounting for about a third...
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Autor*in:	Michelle M. Monasky [verfasserIn] Emanuele Micaglio [verfasserIn] Daniela Giachino [verfasserIn] Giuseppe Ciconte [verfasserIn] Luigi Giannelli [verfasserIn] Emanuela T. Locati [verfasserIn] Elisa Ramondini [verfasserIn] Roberta Cotugno [verfasserIn] Gabriele Vicedomini [verfasserIn] Valeria Borrelli [verfasserIn] Andrea Ghiroldi [verfasserIn] Luigi Anastasia [verfasserIn] Carlo Pappone [verfasserIn]

Format:	E-Artikel
Sprache:	Englisch

Erschienen:	2019

Schlagwörter:	brugada syndrome sudden cardiac death genetic testing arrhythmia sodium channel channelopathy variant mutation humans family nonsense mutation premature stop codon

Übergeordnetes Werk:	In: International Journal of Molecular Sciences - MDPI AG, 2003, 20(2019), 22, p 5522
Übergeordnetes Werk:	volume:20 ; year:2019 ; number:22, p 5522

Links:	Link aufrufen Link aufrufen Link aufrufen Journal toc

DOI / URN:	10.3390/ijms20225522

Katalog-ID:	DOAJ068696779

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520			\|a Brugada syndrome (BrS) is marked by coved ST-segment elevation and increased risk of sudden cardiac death. The genetics of this syndrome are elusive in over half of the cases. Variants in the <i<SCN5A</i< gene are the single most common known genetic unifier, accounting for about a third of cases. Research models, such as animal models and cell lines, are limited. In the present study, we report the novel NM_198056.2:c.1111C>T (p.Gln371*) heterozygous variant in the <i<SCN5A</i< gene, as well as its segregation with BrS in a large family. The results herein suggest a pathogenic effect of this variant. Functional studies are certainly warranted to characterize the molecular effects of this variant.
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allfields	10.3390/ijms20225522 doi (DE-627)DOAJ068696779 (DE-599)DOAJe07216a926b542f69f3f5599690011c2 DE-627 ger DE-627 rakwb eng QH301-705.5 QD1-999 Michelle M. Monasky verfasserin aut Genotype–Phenotype Correlation in a Family with Brugada Syndrome Harboring the Novel p.Gln371* Nonsense Variant in the <em<SCN5A</em< Gene 2019 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Brugada syndrome (BrS) is marked by coved ST-segment elevation and increased risk of sudden cardiac death. The genetics of this syndrome are elusive in over half of the cases. Variants in the <i<SCN5A</i< gene are the single most common known genetic unifier, accounting for about a third of cases. Research models, such as animal models and cell lines, are limited. In the present study, we report the novel NM_198056.2:c.1111C>T (p.Gln371*) heterozygous variant in the <i<SCN5A</i< gene, as well as its segregation with BrS in a large family. The results herein suggest a pathogenic effect of this variant. Functional studies are certainly warranted to characterize the molecular effects of this variant. brugada syndrome sudden cardiac death genetic testing arrhythmia <i<scn5a</i< sodium channel channelopathy variant mutation humans family nonsense mutation premature stop codon Biology (General) Chemistry Emanuele Micaglio verfasserin aut Daniela Giachino verfasserin aut Giuseppe Ciconte verfasserin aut Luigi Giannelli verfasserin aut Emanuela T. Locati verfasserin aut Elisa Ramondini verfasserin aut Roberta Cotugno verfasserin aut Gabriele Vicedomini verfasserin aut Valeria Borrelli verfasserin aut Andrea Ghiroldi verfasserin aut Luigi Anastasia verfasserin aut Carlo Pappone verfasserin aut In International Journal of Molecular Sciences MDPI AG, 2003 20(2019), 22, p 5522 (DE-627)316340715 (DE-600)2019364-6 14220067 nnns volume:20 year:2019 number:22, p 5522 https://doi.org/10.3390/ijms20225522 kostenfrei https://doaj.org/article/e07216a926b542f69f3f5599690011c2 kostenfrei https://www.mdpi.com/1422-0067/20/22/5522 kostenfrei https://doaj.org/toc/1422-0067 Journal toc kostenfrei GBV_USEFLAG_A SYSFLAG_A GBV_DOAJ SSG-OLC-PHA GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_70 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_224 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_2005 GBV_ILN_2009 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2055 GBV_ILN_2111 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 20 2019 22, p 5522
spelling	10.3390/ijms20225522 doi (DE-627)DOAJ068696779 (DE-599)DOAJe07216a926b542f69f3f5599690011c2 DE-627 ger DE-627 rakwb eng QH301-705.5 QD1-999 Michelle M. Monasky verfasserin aut Genotype–Phenotype Correlation in a Family with Brugada Syndrome Harboring the Novel p.Gln371* Nonsense Variant in the <em<SCN5A</em< Gene 2019 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Brugada syndrome (BrS) is marked by coved ST-segment elevation and increased risk of sudden cardiac death. The genetics of this syndrome are elusive in over half of the cases. Variants in the <i<SCN5A</i< gene are the single most common known genetic unifier, accounting for about a third of cases. Research models, such as animal models and cell lines, are limited. In the present study, we report the novel NM_198056.2:c.1111C>T (p.Gln371*) heterozygous variant in the <i<SCN5A</i< gene, as well as its segregation with BrS in a large family. The results herein suggest a pathogenic effect of this variant. Functional studies are certainly warranted to characterize the molecular effects of this variant. brugada syndrome sudden cardiac death genetic testing arrhythmia <i<scn5a</i< sodium channel channelopathy variant mutation humans family nonsense mutation premature stop codon Biology (General) Chemistry Emanuele Micaglio verfasserin aut Daniela Giachino verfasserin aut Giuseppe Ciconte verfasserin aut Luigi Giannelli verfasserin aut Emanuela T. Locati verfasserin aut Elisa Ramondini verfasserin aut Roberta Cotugno verfasserin aut Gabriele Vicedomini verfasserin aut Valeria Borrelli verfasserin aut Andrea Ghiroldi verfasserin aut Luigi Anastasia verfasserin aut Carlo Pappone verfasserin aut In International Journal of Molecular Sciences MDPI AG, 2003 20(2019), 22, p 5522 (DE-627)316340715 (DE-600)2019364-6 14220067 nnns volume:20 year:2019 number:22, p 5522 https://doi.org/10.3390/ijms20225522 kostenfrei https://doaj.org/article/e07216a926b542f69f3f5599690011c2 kostenfrei https://www.mdpi.com/1422-0067/20/22/5522 kostenfrei https://doaj.org/toc/1422-0067 Journal toc kostenfrei GBV_USEFLAG_A SYSFLAG_A GBV_DOAJ SSG-OLC-PHA GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_70 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_224 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_2005 GBV_ILN_2009 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2055 GBV_ILN_2111 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 20 2019 22, p 5522
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allfieldsSound	10.3390/ijms20225522 doi (DE-627)DOAJ068696779 (DE-599)DOAJe07216a926b542f69f3f5599690011c2 DE-627 ger DE-627 rakwb eng QH301-705.5 QD1-999 Michelle M. Monasky verfasserin aut Genotype–Phenotype Correlation in a Family with Brugada Syndrome Harboring the Novel p.Gln371* Nonsense Variant in the <em<SCN5A</em< Gene 2019 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Brugada syndrome (BrS) is marked by coved ST-segment elevation and increased risk of sudden cardiac death. The genetics of this syndrome are elusive in over half of the cases. Variants in the <i<SCN5A</i< gene are the single most common known genetic unifier, accounting for about a third of cases. Research models, such as animal models and cell lines, are limited. In the present study, we report the novel NM_198056.2:c.1111C>T (p.Gln371*) heterozygous variant in the <i<SCN5A</i< gene, as well as its segregation with BrS in a large family. The results herein suggest a pathogenic effect of this variant. Functional studies are certainly warranted to characterize the molecular effects of this variant. brugada syndrome sudden cardiac death genetic testing arrhythmia <i<scn5a</i< sodium channel channelopathy variant mutation humans family nonsense mutation premature stop codon Biology (General) Chemistry Emanuele Micaglio verfasserin aut Daniela Giachino verfasserin aut Giuseppe Ciconte verfasserin aut Luigi Giannelli verfasserin aut Emanuela T. Locati verfasserin aut Elisa Ramondini verfasserin aut Roberta Cotugno verfasserin aut Gabriele Vicedomini verfasserin aut Valeria Borrelli verfasserin aut Andrea Ghiroldi verfasserin aut Luigi Anastasia verfasserin aut Carlo Pappone verfasserin aut In International Journal of Molecular Sciences MDPI AG, 2003 20(2019), 22, p 5522 (DE-627)316340715 (DE-600)2019364-6 14220067 nnns volume:20 year:2019 number:22, p 5522 https://doi.org/10.3390/ijms20225522 kostenfrei https://doaj.org/article/e07216a926b542f69f3f5599690011c2 kostenfrei https://www.mdpi.com/1422-0067/20/22/5522 kostenfrei https://doaj.org/toc/1422-0067 Journal toc kostenfrei GBV_USEFLAG_A SYSFLAG_A GBV_DOAJ SSG-OLC-PHA GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_70 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_224 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_2005 GBV_ILN_2009 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2055 GBV_ILN_2111 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 20 2019 22, p 5522
language	English
source	In International Journal of Molecular Sciences 20(2019), 22, p 5522 volume:20 year:2019 number:22, p 5522
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container_title	International Journal of Molecular Sciences
authorswithroles_txt_mv	Michelle M. Monasky @@aut@@ Emanuele Micaglio @@aut@@ Daniela Giachino @@aut@@ Giuseppe Ciconte @@aut@@ Luigi Giannelli @@aut@@ Emanuela T. Locati @@aut@@ Elisa Ramondini @@aut@@ Roberta Cotugno @@aut@@ Gabriele Vicedomini @@aut@@ Valeria Borrelli @@aut@@ Andrea Ghiroldi @@aut@@ Luigi Anastasia @@aut@@ Carlo Pappone @@aut@@
publishDateDaySort_date	2019-01-01T00:00:00Z
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callnumber-first	Q - Science
author	Michelle M. Monasky
spellingShingle	Michelle M. Monasky misc QH301-705.5 misc QD1-999 misc brugada syndrome misc sudden cardiac death misc genetic testing misc arrhythmia misc <i<scn5a</i< misc sodium channel misc channelopathy misc variant misc mutation misc humans misc family misc nonsense mutation misc premature stop codon misc Biology (General) misc Chemistry Genotype–Phenotype Correlation in a Family with Brugada Syndrome Harboring the Novel p.Gln371* Nonsense Variant in the <em<SCN5A</em< Gene
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topic_title	QH301-705.5 QD1-999 Genotype–Phenotype Correlation in a Family with Brugada Syndrome Harboring the Novel p.Gln371* Nonsense Variant in the <em<SCN5A</em< Gene brugada syndrome sudden cardiac death genetic testing arrhythmia <i<scn5a</i< sodium channel channelopathy variant mutation humans family nonsense mutation premature stop codon
topic	misc QH301-705.5 misc QD1-999 misc brugada syndrome misc sudden cardiac death misc genetic testing misc arrhythmia misc <i<scn5a</i< misc sodium channel misc channelopathy misc variant misc mutation misc humans misc family misc nonsense mutation misc premature stop codon misc Biology (General) misc Chemistry
topic_unstemmed	misc QH301-705.5 misc QD1-999 misc brugada syndrome misc sudden cardiac death misc genetic testing misc arrhythmia misc <i<scn5a</i< misc sodium channel misc channelopathy misc variant misc mutation misc humans misc family misc nonsense mutation misc premature stop codon misc Biology (General) misc Chemistry
topic_browse	misc QH301-705.5 misc QD1-999 misc brugada syndrome misc sudden cardiac death misc genetic testing misc arrhythmia misc <i<scn5a</i< misc sodium channel misc channelopathy misc variant misc mutation misc humans misc family misc nonsense mutation misc premature stop codon misc Biology (General) misc Chemistry
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title	Genotype–Phenotype Correlation in a Family with Brugada Syndrome Harboring the Novel p.Gln371* Nonsense Variant in the <em<SCN5A</em< Gene
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title_full	Genotype–Phenotype Correlation in a Family with Brugada Syndrome Harboring the Novel p.Gln371* Nonsense Variant in the <em<SCN5A</em< Gene
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author_browse	Michelle M. Monasky Emanuele Micaglio Daniela Giachino Giuseppe Ciconte Luigi Giannelli Emanuela T. Locati Elisa Ramondini Roberta Cotugno Gabriele Vicedomini Valeria Borrelli Andrea Ghiroldi Luigi Anastasia Carlo Pappone
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title_sort	genotype–phenotype correlation in a family with brugada syndrome harboring the novel p.gln371* nonsense variant in the <em<scn5a</em< gene
callnumber	QH301-705.5
title_auth	Genotype–Phenotype Correlation in a Family with Brugada Syndrome Harboring the Novel p.Gln371* Nonsense Variant in the <em<SCN5A</em< Gene
abstract	Brugada syndrome (BrS) is marked by coved ST-segment elevation and increased risk of sudden cardiac death. The genetics of this syndrome are elusive in over half of the cases. Variants in the <i<SCN5A</i< gene are the single most common known genetic unifier, accounting for about a third of cases. Research models, such as animal models and cell lines, are limited. In the present study, we report the novel NM_198056.2:c.1111C>T (p.Gln371*) heterozygous variant in the <i<SCN5A</i< gene, as well as its segregation with BrS in a large family. The results herein suggest a pathogenic effect of this variant. Functional studies are certainly warranted to characterize the molecular effects of this variant.
abstractGer	Brugada syndrome (BrS) is marked by coved ST-segment elevation and increased risk of sudden cardiac death. The genetics of this syndrome are elusive in over half of the cases. Variants in the <i<SCN5A</i< gene are the single most common known genetic unifier, accounting for about a third of cases. Research models, such as animal models and cell lines, are limited. In the present study, we report the novel NM_198056.2:c.1111C>T (p.Gln371*) heterozygous variant in the <i<SCN5A</i< gene, as well as its segregation with BrS in a large family. The results herein suggest a pathogenic effect of this variant. Functional studies are certainly warranted to characterize the molecular effects of this variant.
abstract_unstemmed	Brugada syndrome (BrS) is marked by coved ST-segment elevation and increased risk of sudden cardiac death. The genetics of this syndrome are elusive in over half of the cases. Variants in the <i<SCN5A</i< gene are the single most common known genetic unifier, accounting for about a third of cases. Research models, such as animal models and cell lines, are limited. In the present study, we report the novel NM_198056.2:c.1111C>T (p.Gln371*) heterozygous variant in the <i<SCN5A</i< gene, as well as its segregation with BrS in a large family. The results herein suggest a pathogenic effect of this variant. Functional studies are certainly warranted to characterize the molecular effects of this variant.
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title_short	Genotype–Phenotype Correlation in a Family with Brugada Syndrome Harboring the Novel p.Gln371* Nonsense Variant in the <em<SCN5A</em< Gene
url	https://doi.org/10.3390/ijms20225522 https://doaj.org/article/e07216a926b542f69f3f5599690011c2 https://www.mdpi.com/1422-0067/20/22/5522 https://doaj.org/toc/1422-0067
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Monasky</subfield><subfield code="e">verfasserin</subfield><subfield code="4">aut</subfield></datafield><datafield tag="245" ind1="1" ind2="0"><subfield code="a">Genotype–Phenotype Correlation in a Family with Brugada Syndrome Harboring the Novel p.Gln371* Nonsense Variant in the <em<SCN5A</em< Gene</subfield></datafield><datafield tag="264" ind1=" " ind2="1"><subfield code="c">2019</subfield></datafield><datafield tag="336" ind1=" " ind2=" "><subfield code="a">Text</subfield><subfield code="b">txt</subfield><subfield code="2">rdacontent</subfield></datafield><datafield tag="337" ind1=" " ind2=" "><subfield code="a">Computermedien</subfield><subfield code="b">c</subfield><subfield code="2">rdamedia</subfield></datafield><datafield tag="338" ind1=" " ind2=" "><subfield code="a">Online-Ressource</subfield><subfield code="b">cr</subfield><subfield code="2">rdacarrier</subfield></datafield><datafield tag="520" ind1=" " ind2=" "><subfield code="a">Brugada syndrome (BrS) is marked by coved ST-segment elevation and increased risk of sudden cardiac death. 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Genotype–Phenotype Correlation in a Family with Brugada Syndrome Harboring the Novel p.Gln371* Nonsense Variant in the <em<SCN5A</em< Gene

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