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A novel TGM1 mutation, leading to multiple splicing rearrangements, is associated with autosomal recessive congenital ichthyosis

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dc.creatorOrtega?Recalde, O.spa
dc.creatorMoreno, M. B.spa
dc.creatorVergara, J. I.spa
dc.creatorFonseca Mendoza, Dora Janethspa
dc.creatorRojas, R. F.spa
dc.creatorMosquera, H.spa
dc.creatorMedina, C. L.spa
dc.creatorRestrepo Fernández, Carlos Martínspa
dc.creatorLaissue, P.spa
dc.date.accessioned2020-05-26T00:04:13Z
dc.date.available2020-05-26T00:04:13Z
dc.date.created2015spa
dc.description.abstractSummary Autosomal recessive congenital ichthyosis (ARCI) is a group of rare, clinically heterogeneous skin disorders that affect cornification. ARCI includes lamellar ichthyosis, congenital ichthyosiform erythroderma and harlequin ichthyosis. TGM1 mutations cause > 50% of ARCI cases in the USA. We report two siblings with ARCI. They were found to carry a novel aetiological TGM1 mutation, which leads to the synthesis of multiple abnormal transcripts. These molecules resulted from three independent mechanisms: intron retention, exon skipping and activation of expand cryptic splice sites. Taken together, our findings expand the known TGM1 mutation repertoire, and provide an insight into the molecular mechanisms leading to ARCI phenotypes. These results could be useful for genetic counselling and future potential genotype-phenotype correlations. © 2015 British Association of Dermatologists.eng
dc.format.mimetypeapplication/pdf
dc.identifier.doihttps://doi.org/10.1111/ced.12627
dc.identifier.issn03076938
dc.identifier.issn13652230
dc.identifier.urihttps://repository.urosario.edu.co/handle/10336/23667
dc.language.isoengspa
dc.publisherBlackwell Publishing Ltdspa
dc.relation.citationEndPage760
dc.relation.citationIssueNo. 7
dc.relation.citationStartPage757
dc.relation.citationTitleClinical and Experimental Dermatology
dc.relation.citationVolumeVol. 40
dc.relation.ispartofClinical and Experimental Dermatology, ISSN:03076938, 13652230, Vol.40, No.7 (2015); pp. 757-760spa
dc.relation.urihttps://www.scopus.com/inward/record.uri?eid=2-s2.0-84941743612&doi=10.1111%2fced.12627&partnerID=40&md5=d08964baba70ca6b24565eec84db8cedspa
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.keywordAdultspa
dc.subject.keywordAmpliconspa
dc.subject.keywordcongenitaleng
dc.subject.keywordrecessiveeng
dc.subject.keywordArticlespa
dc.subject.keywordAutosomal recessive congenital ichthyosisspa
dc.subject.keywordCase reportspa
dc.subject.keywordExon skippingspa
dc.subject.keywordFemalespa
dc.subject.keywordGenespa
dc.subject.keywordGene mutationspa
dc.subject.keywordGene rearrangementspa
dc.subject.keywordGenetic counselingspa
dc.subject.keywordGenotypespa
dc.subject.keywordGenotype phenotype correlationspa
dc.subject.keywordHumanspa
dc.subject.keywordIchthyosisspa
dc.subject.keywordIntronspa
dc.subject.keywordIntron retentionspa
dc.subject.keywordPhenotypespa
dc.subject.keywordPhysical examinationspa
dc.subject.keywordPriority journalspa
dc.subject.keywordSingle nucleotide polymorphismspa
dc.subject.keywordStop codonspa
dc.subject.keywordTgm1 genespa
dc.subject.keywordCongenital ichthyosiform erythrodermaspa
dc.subject.keywordGenetic predispositionspa
dc.subject.keywordGeneticsspa
dc.subject.keywordMutationspa
dc.subject.keywordRecessive genespa
dc.subject.keywordRna splicingspa
dc.subject.keywordProtein glutamine gamma glutamyltransferasespa
dc.subject.keywordRna splicingspa
dc.subject.keywordTransglutaminase 1spa
dc.subject.keywordAdultspa
dc.subject.keywordFemalespa
dc.subject.keywordGeneseng
dc.subject.keywordGenetic predisposition to diseasespa
dc.subject.keywordHumansspa
dc.subject.keywordIchthyosiform erythrodermaeng
dc.subject.keywordMutationspa
dc.subject.keywordRna splice sitesspa
dc.subject.keywordTransglutaminasesspa
dc.titleA novel TGM1 mutation, leading to multiple splicing rearrangements, is associated with autosomal recessive congenital ichthyosisspa
dc.typearticleeng
dc.type.hasVersioninfo:eu-repo/semantics/publishedVersion
dc.type.spaArtículospa
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