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Solving a case of allelic dropout in the GNPTAB gene: implications in the molecular diagnosis of mucolipidosis type III alpha/beta

2016-10-21Journal article Open access
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dc.contributor.authorCoutinho, Maria Francisca
dc.contributor.authorEncarnação, Marisa
dc.contributor.authorLaranjeira, Francisco
dc.contributor.authorLacerda, Lúcia
dc.contributor.authorPrata, Maria João
dc.contributor.authorAlves, Sandra
dc.date.accessioned2017-02-20T15:13:01Z
dc.date.available2017-02-20T15:13:01Z
dc.date.issued2016-10-21
dc.description.abstractWhile being well known that the diagnosis of many genetic disorders relies on a combination of clinical suspicion and confirmatory genetic testing, not rarely, however, genetic testing needs much perseverance and cunning strategies to identify the causative mutation(s). Here we present a case of a thorny molecular diagnosis of mucolipidosis type III alpha/beta, which is an autosomal recessive lysosomal storage disorder, caused by a defect in the GNPTAB gene that codes for the α/β-subunits of the GlcNAc-1-phosphotransferase. We used both cDNA and gDNA analyses to characterize a mucolipidosis type III alpha/beta patient whose clinical diagnosis was already confirmed biochemically. In a first stage only one causal mutation was identified in heterozygosity, the already described missense mutation c.1196C>T(p.S399F), both at cDNA and gDNA levels. Only after conducting inhibition of nonsense-mediated mRNA decay (NMD) assays and after the utilization of another pair of primers the second mutation, the c.3503_3504delTC deletion, was identified. Our findings illustrate that allelic dropout due to the presence of polymorphisms and/or of mutations that trigger the NMD pathway can cause difficulties in current molecular diagnosis tests.pt_PT
dc.description.sponsorshipM.F. Coutinho is grantee from the FCT (SFRH/BPD/101965/2014).pt_PT
dc.description.versioninfo:eu-repo/semantics/publishedVersionpt_PT
dc.identifier.citationJ Pediatr Endocrinol Metab. 2016 Oct 1;29(10):1225-1228. doi: 10.1515/jpem-2016-0173pt_PT
dc.identifier.doi10.1515/jpem-2016-0173pt_PT
dc.identifier.issn0334-018X
dc.identifier.urihttp://hdl.handle.net/10400.18/4286
dc.language.isoengpt_PT
dc.peerreviewedyespt_PT
dc.publisherDe Gruyter/ Freund Publishing Housept_PT
dc.relation.publisherversionhttps://www.degruyter.com/view/j/jpem.2016.29.issue-10/jpem-2016-0173/jpem-2016-0173.xmlpt_PT
dc.rights.urihttp://creativecommons.org/licenses/by-nc/4.0/pt_PT
dc.subjectAllelic Dropoutpt_PT
dc.subjectGenotype-phenotype Correlationpt_PT
dc.subjectGlcNAc-1-phosphotransferasept_PT
dc.subjectGNPTABpt_PT
dc.subjectML III alpha/betapt_PT
dc.subjectMolecular Genetic Testingpt_PT
dc.subjectNonsense Mediated mRNA Decaypt_PT
dc.subjectPolymorphismpt_PT
dc.subjectDoenças Genéticaspt_PT
dc.titleSolving a case of allelic dropout in the GNPTAB gene: implications in the molecular diagnosis of mucolipidosis type III alpha/betapt_PT
dc.typejournal article
dspace.entity.typePublication
oaire.citation.endPage1228pt_PT
oaire.citation.issue10pt_PT
oaire.citation.startPage1225pt_PT
oaire.citation.titleJournal of Pediatric Endocrinology and Metabolismpt_PT
oaire.citation.volume29pt_PT
rcaap.rightsopenAccesspt_PT
rcaap.typearticlept_PT

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