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Exome sequencing is an efficient tool for variant late-infantile neuronal ceroid lipofuscinosis molecular diagnosis

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dc.creatorPatiño, Liliana Catherine
dc.creatorBattu, Rajani
dc.creatorOrtega-Recalde, Oscar
dc.creatorNallathambi, Jeyabalan
dc.creatorAnandula, Venkata Ramana
dc.creatorRenukaradhya, Umashankar
dc.creatorLaissue, Paul
dc.creator.googlePatiño, Liliana Catherinespa
dc.creator.googleBattu, Rajanispa
dc.creator.googleOrtega-Recalde, Oscarspa
dc.creator.googleNallathambi, Jeyabalanspa
dc.creator.googleAnandula, Venkata Ramanaspa
dc.creator.googleRenukaradhya, Umashankarspa
dc.creator.googleLaissue, Paulspa
dc.date.accessioned2020-04-22T04:07:59Z
dc.date.available2020-04-22T04:07:59Z
dc.date.created2014
dc.date.issued2014
dc.description.abstractThe neuronal ceroid-lipofuscinoses (NCL) is a group of neurodegenerative disorders characterized by epilepsy, visual failure, progressive mental and motor deterioration, myoclonus, dementia and reduced life expectancy. Classically, NCL-affected individuals have been classified into six categories, which have been mainly defined regarding the clinical onset of symptoms. However, some patients cannot be easily included in a specific group because of significant variation in the age of onset and disease progression. Molecular genetics has emerged in recent years as a useful tool for enhancing NCL subtype classification. Fourteen NCL genetic forms (CLN1 to CLN14) have been described to date. The variant late-infantile form of the disease has been linked to CLN5, CLN6, CLN7 (MFSD8) and CLN8 mutations. Despite advances in the diagnosis of neurodegenerative disorders mutations in these genes may cause similar phenotypes, which rends difficult accurate candidate gene selection for direct sequencing. Three siblings who were affected by variant late-infantile NCL are reported in the present study. We used whole-exome sequencing, direct sequencing and in silico approaches to identify the molecular basis of the disease. We identified the novel c.1219T>C (p.Trp407Arg) and c.1361T>C (p.Met454Thr) MFSD8 pathogenic mutations. Our results highlighted next generation sequencing as a novel and powerful methodological approach for the rapid determination of the molecular diagnosis of NCL. They also provide information regarding the phenotypic and molecular spectrum of CLN7 disease. Copyright: © 2014 Patiño et al.eng
dc.format.mimetypeapplication/pdf
dc.identifier.doihttps://doi.org/10.1371/journal.pone.0109576
dc.identifier.issn1932-6203
dc.identifier.urihttps://repository.urosario.edu.co/handle/10336/21733
dc.language.isoengspa
dc.relation.citationIssueNo. 10
dc.relation.citationTitlePLoS ONE
dc.relation.citationVolumeVol. 9
dc.relation.ispartofPLoS ONE, ISSN: 1932-6203 Vol. 9, No. 10 (2014)spa
dc.relation.urihttps://journals.plos.org/plosone/article/file?id=10.1371/journal.pone.0109576&type=printablespa
dc.rights.accesRightsinfo:eu-repo/semantics/openAccess
dc.rights.accesoAbierto (Texto Completo)spa
dc.source.instnameinstname:Universidad del Rosario
dc.source.reponamereponame:Repositorio Institucional EdocUR
dc.subjectCisteínaspa
dc.subjectFacilitador principalspa
dc.subjectDominio de la superfamilia que contiene proteína 8spa
dc.subjectProteína estructuralspa
dc.subjectTreoninaspa
dc.subjectDroga no clasificadaspa
dc.subject.ddcEnfermedadesspa
dc.subject.keywordCysteinespa
dc.subject.keywordMajor facilitator superfamily domain containing protein 8spa
dc.subject.keywordMethioninespa
dc.subject.keywordStructural proteinspa
dc.subject.keywordThreoninespa
dc.subject.keywordUnclassified drugspa
dc.subject.lembEnfermedades del sistema nerviosospa
dc.subject.lembNeurologíaspa
dc.titleExome sequencing is an efficient tool for variant late-infantile neuronal ceroid lipofuscinosis molecular diagnosisspa
dc.typearticleeng
dc.type.hasVersioninfo:eu-repo/semantics/publishedVersion
dc.type.spaArtículospa
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