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dc.contributor.authorFachin, Ana Carolina Brusiuspt_BR
dc.contributor.authorSiebert, Marinapt_BR
dc.contributor.authorLeão, Delva Pereirapt_BR
dc.contributor.authorMálaga, Diana Elizabeth Rojaspt_BR
dc.contributor.authorPasqualim, Gabrielapt_BR
dc.contributor.authorTrapp, Franciele Barbosapt_BR
dc.contributor.authorMatte, Ursula da Silveirapt_BR
dc.contributor.authorGiugliani, Robertopt_BR
dc.contributor.authorLeistner-Segal, Sandrapt_BR
dc.date.accessioned2019-10-26T03:50:23Zpt_BR
dc.date.issued2019pt_BR
dc.identifier.issn1415-4757pt_BR
dc.identifier.urihttp://hdl.handle.net/10183/201045pt_BR
dc.description.abstractMucopolysaccharidosis (MPS) are a group of rare genetic disorders caused by deficiency in the activity of specific lysosomal enzymes required for the degradation of glycosaminoglycans (GAGs). A defect in the activity of these enzymes will result in the abnormal accumulation of GAGs inside the lysosomes of most cells, inducing progressive cellular damage and multiple organ failure. DNA samples from 70 patients with biochemical diagnosis of different MPSs genotypes confirmed by Sanger sequencing were used to evaluate a Next Generation Sequencing (NGS) protocol. Eleven genes related to MPSs were divided into three different panels according to the clinical phenotype. This strategy led to the identification of several pathogenic mutations distributed across all exons of MPSs-related genes. We were able to identify 96% of all gene variants previously identified by Sanger sequencing, showing high sensitivity in detecting different types of mutations. Furthermore, new variants were not identified, representing 100% specificity of the NGS protocol. The use of this NGS approach for genotype identification in MPSs is an attractive option for diagnosis of patients. In addition, the MPS diagnosis workflow could be divided in a two-tier approach: NGS as a first-tier followed by biochemical confirmation as a second-tier.en
dc.format.mimetypeapplication/pdfpt_BR
dc.language.isoengpt_BR
dc.relation.ispartofGenetics and molecular biology. Ribeirão Preto. Vol. 42, n. 1, suppl. 1 (2019), p. 261-285pt_BR
dc.rightsOpen Accessen
dc.subjectMucopolissacaridosespt_BR
dc.subjectLysosomal storage diseaseen
dc.subjectDoenças por armazenamento dos lisossomospt_BR
dc.subjectMucopolysaccharidosesen
dc.subjectNext generation sequencingen
dc.subjectMutaçãopt_BR
dc.subjectTarget sequenceen
dc.subjectMutation detectionen
dc.titlePhenotype-oriented NGS panels for mucopolysaccharidoses : validation and potential use in the diagnostic flowchartpt_BR
dc.typeArtigo de periódicopt_BR
dc.identifier.nrb001101798pt_BR
dc.type.originNacionalpt_BR


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