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Assessment of a targeted resequencing assay as a support tool in the diagnosis of lysosomal storage disorders

2014Journal article Open access
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dc.contributor.authorFernández-Marmiesse, A.
dc.contributor.authorMorey, M.
dc.contributor.authorPineda, M.
dc.contributor.authorEiris, J.
dc.contributor.authorCouce, M.
dc.contributor.authorCastro-Gago, M.
dc.contributor.authorFraga, J.
dc.contributor.authorLacerda, L.
dc.contributor.authorGouveia, S.
dc.contributor.authorPérez-Poyato, M.
dc.contributor.authorArmstrong, J.
dc.contributor.authorCastiñeiras, D.
dc.contributor.authorCocho, J.
dc.date.accessioned2015-10-27T10:28:19Z
dc.date.available2015-10-27T10:28:19Z
dc.date.issued2014
dc.description.abstractBACKGROUND: With over 50 different disorders and a combined incidence of up to 1/3000 births, lysosomal storage diseases (LSDs) constitute a major public health problem and place an enormous burden on affected individuals and their families. Many factors make LSD diagnosis difficult, including phenotype and penetrance variability, shared signs and symptoms, and problems inherent to biochemical diagnosis. Developing a powerful diagnostic tool could mitigate the protracted diagnostic process for these families, lead to better outcomes for current and proposed therapies, and provide the basis for more appropriate genetic counseling. METHODS: We have designed a targeted resequencing assay for the simultaneous testing of 57 lysosomal genes, using in-solution capture as the enrichment method and two different sequencing platforms. A total of 84 patients with high to moderate-or low suspicion index for LSD were enrolled in different centers in Spain and Portugal, including 18 positive controls. RESULTS: We correctly diagnosed 18 positive blinded controls, provided genetic diagnosis to 25 potential LSD patients, and ended with 18 diagnostic odysseys. CONCLUSION: We report the assessment of a next-generation-sequencing-based approach as an accessory tool in the diagnosis of LSDs, a group of disorders which have overlapping clinical profiles and genetic heterogeneity. We have also identified and quantified the strengths and limitations of next generation sequencing (NGS) technology applied to diagnosis.pt_PT
dc.identifier10.1186/1750-1172-9-59
dc.identifier.citationOrphanet J Rare Dis. 2014, 9:59pt_PT
dc.identifier.doi10.1186/1750-1172-9-59
dc.identifier.issn1750-1172
dc.identifier.urihttp://hdl.handle.net/10400.16/1868
dc.language.isoengpt_PT
dc.peerreviewedyespt_PT
dc.publisherBioMed Centralpt_PT
dc.relation.publisherversionhttp://www.ojrd.com/content/pdf/1750-1172-9-59.pdfpt_PT
dc.subjectIn-solution enrichmentpt_PT
dc.subjectTargeted resequencingpt_PT
dc.subjectLysosomal storage disorderspt_PT
dc.subjectDiagnostic odysseyspt_PT
dc.titleAssessment of a targeted resequencing assay as a support tool in the diagnosis of lysosomal storage disorderspt_PT
dc.typejournal article
dspace.entity.typePublication
oaire.citation.conferencePlaceEnglandpt_PT
oaire.citation.titleOrphanet journal of rare diseasespt_PT
rcaap.rightsopenAccesspt_PT
rcaap.typearticlept_PT

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