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dc.contributorSistema FMUSP-HC: Faculdade de Medicina da Universidade de São Paulo (FMUSP) e Hospital das Clínicas da FMUSP
dc.contributor.authorALVARENGA, Aline Morgan
dc.contributor.authorSILVA, Nathalia Kozikas da
dc.contributor.authorFONSECA, Paula Fernanda Silva
dc.contributor.authorOLIVEIRA, Theo G. M.
dc.contributor.authorMONTEIRO, Jacilene Barbosa da Silva
dc.contributor.authorCANCADO, Rodolfo Delfini
dc.contributor.authorNAOUM, Flavio Augusto
dc.contributor.authorDINARDO, Carla Luana
dc.contributor.authorBRISSOT, Pierre
dc.contributor.authorSANTOS, Paulo Caleb Junior Lima
dc.identifier.citationBLOOD CELLS MOLECULES AND DISEASES, v.84, article ID 102444, 6p, 2020
dc.description.abstractBackground: Five main genes are associated with hemochromatosis; however, current studies show that, in addition to these genes, others may be associated with primary iron overload (IO). One of these is the bone morphogenetic protein 6 ( BMP6 ), which encodes a protein that modulates hepcidin synthesis and, consequently, iron homeostasis. Aim: To identify BMP6 gene pathogenic variants in patients with IO and non-homozygous genotype for the HFE p.Cys282Tyr mutation. Materials and methods: Fifty-three patients with primary IO and non-homozygous genotype for the HFE p.Cys282Tyr were selected. Subsequent bidirectional DNA sequencing of BMP6 exons was performed. Results: Two novel variants were found. One at homozygous state p.Gln158Ter (c.472C T) was pathogenic, the other one at heterozygous state p.Val394Met (c.1180G > A) was of uncertain signi ficance (VUS); the third variant at heterozygous state p.Arg257His (c.770G > A) has already been described and associated with IO. No BMP6 pathogenic variants that would explain iron overload phenotypes were detected in 94% of the studied patients. Conclusion: Identi fication of the BMP6 pathogenic variants in Brazilian patients with primary IO might contribute to the genetic understanding of this phenotype.eng
dc.relation.ispartofBlood Cells Molecules and Diseases
dc.subjectIron overloadeng
dc.subjectNon-homozygous genotype for the HFE p.Cys282Tyreng
dc.titleNovel mutations in the bone morphogenetic protein 6 gene in patients with iron overload and non-homozygous genotype for the HFE p.Cys282Tyr mutationeng
dc.rights.holderCopyright ACADEMIC PRESS INC ELSEVIER SCIENCEeng
dc.type.categoryoriginal articleeng
dc.type.versionpublishedVersioneng, Aline Morgan:Univ Fed Sao Paulo, Escola Paulista Med, EPM Unifesp, Dept Pharmacol, Sao Paulo, Brazil, Nathalia Kozikas da:Univ Fed Sao Paulo, Escola Paulista Med, EPM Unifesp, Dept Pharmacol, Sao Paulo, Brazil, Paula Fernanda Silva:Univ Fed Sao Paulo, Escola Paulista Med, EPM Unifesp, Dept Pharmacol, Sao Paulo, Brazil, Jacilene Barbosa da Silva:Univ Fed Sao Paulo, Escola Paulista Med, EPM Unifesp, Dept Pharmacol, Sao Paulo, Brazil, Rodolfo Delfini:Santa Casa Sao Paulo Med Sch, Hematol Div, Sao Paulo, Brazil, Flavio Augusto:Acad Ciencia & Tecnol, Sao Jose Do Rio Preto, Brazil, Pierre:Univ Rennes 1, Inserm U1241, Inst NuMeCan, Rennes, France, Paulo Caleb Junior Lima:Univ Fed Sao Paulo, Escola Paulista Med, EPM Unifesp, Dept Pharmacol, Sao Paulo, Brazil
hcfmusp.publisher.citySAN DIEGOeng
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Artigos e Materiais de Revistas Científicas - FM/Outros
Outros departamentos - FM/Outros

Artigos e Materiais de Revistas Científicas - LIM/31
LIM/31 - Laboratório de Genética e Hematologia Molecular

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