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Next-generation sequencing of hereditary hemochromatosis-related genes: novel likely pathogenic variants found in the Portuguese population

2016-10Journal article Restricted access
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dc.contributor.authorFaria, Ricardo
dc.contributor.authorSilva, Bruno
dc.contributor.authorSilva, Catarina
dc.contributor.authorLoureiro, Pedro
dc.contributor.authorQueiroz, Ana
dc.contributor.authorFraga, Sofia
dc.contributor.authorEsteves, Jorge
dc.contributor.authorMendes, Diana
dc.contributor.authorFleming, Rita
dc.contributor.authorVieira, Luís
dc.contributor.authorGonçalves, João
dc.contributor.authorFaustino, Paula
dc.date.accessioned2016-10-03T12:00:04Z
dc.date.available2020-07-01T00:30:10Z
dc.date.issued2016-10
dc.description.abstractHereditary hemochromatosis (HH) is an autosomal recessive disorder characterized by excessive iron absorption resulting in pathologically increased body iron stores. It is typically associated with common HFE gene mutation (p.Cys282Tyr and p.His63Asp). However, in Southern European populations up to one third of HH patients do not carry the risk genotypes. This study aimed to explore the use of next-generation sequencing (NGS) technology to analyse a panel of iron metabolism-related genes (HFE, TFR2, HJV, HAMP, SLC40A1, and FTL) in 87 non-classic HH Portuguese patients. A total of 1241 genetic alterations were detected corresponding to 53 different variants, 13 of which were not described in the available public databases. Among them, five were predicted to be potentially pathogenic: three novel mutations in TFR2 [two missense (p.Leu750Pro and p.Ala777Val) and one intronic splicing mutation (c.967-1GNC)], one missense mutation in HFE (p.Tyr230Cys), and one mutation in the 5′-UTR of HAMP gene(c.-25GNA). The results reported here illustrate the usefulness of NGS for targeted iron metabolism-related gene panels, as a likely cost-effective approach for molecular genetics diagnosis of non-classic HH patients. Simultaneously, it has contributed to the knowledge of the pathophysiology of those rare iron metabolism-related disorders.pt_PT
dc.identifier.citationBlood Cells, Molecules and Diseases. 2016;61:10-15. doi:10.1016/j.bcmd.2016.07.004pt_PT
dc.identifier.doi10.1016/j.bcmd.2016.07.004pt_PT
dc.identifier.issn1079-9796
dc.identifier.urihttp://hdl.handle.net/10400.18/4011
dc.language.isoengpt_PT
dc.peerreviewedyespt_PT
dc.publisherElsevier/Academic Presspt_PT
dc.relationThis work was partially supported by Fundação para a Ciência e a Tecnologia: PEst-OE/SAU/UI0009/2013.pt_PT
dc.relation.publisherversionhttp://www.sciencedirect.com/science/article/pii/S1079979616300948pt_PT
dc.subjectDoenças Genéticaspt_PT
dc.subjectDoenças Raraspt_PT
dc.subjectMetabolismo do Ferropt_PT
dc.subjectHemocromatose Hereditáriapt_PT
dc.subjectNext-generation Sequencingpt_PT
dc.subjectNovel Mutationspt_PT
dc.subjectGenetic Variantspt_PT
dc.subjectIron Metabolismpt_PT
dc.subjectHereditary Hemochromatosispt_PT
dc.titleNext-generation sequencing of hereditary hemochromatosis-related genes: novel likely pathogenic variants found in the Portuguese populationpt_PT
dc.typejournal article
dspace.entity.typePublication
oaire.citation.endPage15pt_PT
oaire.citation.startPage10pt_PT
oaire.citation.titleBlood Cells, Molecules and Diseasespt_PT
oaire.citation.volume61pt_PT
rcaap.rightsopenAccesspt_PT
rcaap.typearticlept_PT

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