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Novel CACNA1S mutation causes autosomal dominant hypokalemic periodic paralysis in a South American family

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dc.creatorKe, Tiespa
dc.creatorGomez, Cladelis Rubiospa
dc.creatorMateus, Heidi Elianaspa
dc.creatorCastano, Juan Andresspa
dc.creatorWang, Qing Kennethspa
dc.date.accessioned2020-05-25T23:56:14Z
dc.date.available2020-05-25T23:56:14Z
dc.date.created2009spa
dc.description.abstractHypokalaemic periodic paralysis (HypoPP) is an autosomal dominant disorder, which is characterized by periodic attacks of muscle weakness associated with a decrease in the serum potassium level. A major disease-causing gene for HypoPP has been identified as CACNA1S, which encodes the skeletal muscle calcium channel ?-subunit with four transmembrane domains (I-IV), each with six transmembrane segments (S1-S6). To date, all CACNA1S mutations identified in HypoPP patients are located within the voltage-sensor S4 segment. In this study we report a novel CACNA1S mutation in a new region of the protein, the S3 segment of domain III. We characterized a four-generation South American family with HypoPP. Genetic analysis identified a novel V876E mutation in all HypoPP patients in the family, but not in normal family members or 160 control people. Clinical analysis indicates that mutation V876E is associated with a severe outcome as characterized by a very early age of onset, complete penetrance and a severe prognosis including death. These results identify a new mutation in CACNA1S and expand the spectrum of CACNA1S mutations associated with HypoPP. © 2009 The Japan Society of Human Genetics All rights reserved.eng
dc.format.mimetypeapplication/pdf
dc.identifier.doihttps://doi.org/10.1038/jhg.2009.92
dc.identifier.issn1435232X
dc.identifier.issn14345161
dc.identifier.urihttps://repository.urosario.edu.co/handle/10336/22368
dc.language.isoengspa
dc.relation.citationEndPage664
dc.relation.citationIssueNo. 11
dc.relation.citationStartPage660
dc.relation.citationTitleJournal of Human Genetics
dc.relation.citationVolumeVol. 54
dc.relation.ispartofJournal of Human Genetics, ISSN:1435232X, 14345161, Vol.54, No.11 (2009); pp. 660-664spa
dc.relation.urihttps://www.scopus.com/inward/record.uri?eid=2-s2.0-74049114226&doi=10.1038%2fjhg.2009.92&partnerID=40&md5=92b366e08440ff0e3f4116f3e5e0c953spa
dc.rights.accesRightsinfo:eu-repo/semantics/openAccess
dc.rights.accesoAbierto (Texto Completo)spa
dc.source.instnameinstname:Universidad del Rosariospa
dc.source.reponamereponame:Repositorio Institucional EdocURspa
dc.subject.keywordCalcium channelspa
dc.subject.keywordGenomic dnaspa
dc.subject.keywordMembrane proteinspa
dc.subject.keywordAdolescentspa
dc.subject.keywordAdultspa
dc.subject.keywordAlpha chainspa
dc.subject.keywordArticlespa
dc.subject.keywordAutosomal dominant inheritancespa
dc.subject.keywordCacna1s genespa
dc.subject.keywordChildspa
dc.subject.keywordClinical articlespa
dc.subject.keywordControlled studyspa
dc.subject.keywordDna isolationspa
dc.subject.keywordDna sequencespa
dc.subject.keywordFemalespa
dc.subject.keywordGenespa
dc.subject.keywordGene mutationspa
dc.subject.keywordGenetic analysisspa
dc.subject.keywordHumanspa
dc.subject.keywordHypokalemic periodic paralysisspa
dc.subject.keywordMalespa
dc.subject.keywordMuscle weaknessspa
dc.subject.keywordPotassium blood levelspa
dc.subject.keywordPreschool childspa
dc.subject.keywordPrognosisspa
dc.subject.keywordProtein domainspa
dc.subject.keywordSchool childspa
dc.subject.keywordSkeletal musclespa
dc.subject.keywordSouth americaspa
dc.subject.keywordAmino acid sequencespa
dc.subject.keywordBase sequencespa
dc.subject.keywordCalcium channelsspa
dc.subject.keywordColombiaspa
dc.subject.keywordDna mutational analysisspa
dc.subject.keywordFamily healthspa
dc.subject.keywordFemalespa
dc.subject.keywordGeneseng
dc.subject.keywordHumansspa
dc.subject.keywordHypokalemic periodic paralysisspa
dc.subject.keywordMalespa
dc.subject.keywordMolecular sequence dataspa
dc.subject.keywordMutationspa
dc.subject.keywordPedigreespa
dc.subject.keywordCacna1sspa
dc.subject.keywordHypokalaemic periodic paralysisspa
dc.subject.keywordMutationspa
dc.titleNovel CACNA1S mutation causes autosomal dominant hypokalemic periodic paralysis in a South American familyspa
dc.typearticleeng
dc.type.hasVersioninfo:eu-repo/semantics/publishedVersion
dc.type.spaArtículospa
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