Rare GBA1 genotype associated with severe bone disease in Gaucher disease type 1
Autor(a) principal: | |
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Data de Publicação: | 2019 |
Outros Autores: | , , , , , , , |
Tipo de documento: | Artigo |
Idioma: | eng |
Título da fonte: | Repositório Institucional da UFRGS |
Texto Completo: | http://hdl.handle.net/10183/232194 |
Resumo: | Introduction:Gaucher disease (GD) type 1 is a lysosomal disease characterised by hepatosplenomegaly, anemia,thrombocytopenia, bone changes, and bone marrow infiltration. The disease is caused by biallelic pathogenicvariants inGBA1which codes for glucocerebrosidase, an enzyme involved in the catabolic pathway of complexlipids.Aims:To report on the case of two sisters with GD type 1 who bear a genotype never reported in the literature.Case report:Patient 1 is a 47-year-old female diagnosed at 42 years of age with chronic lumbar pain, mildsplenomegaly, slightly reduced platelets and normal hemoglobin values, severe Bone Marrow Burden (BMB)score, high chitotriosidase activity, and low glucocerebrosidase. Patient 2 is a 50-year-old female, sister of pa-tient 1, who was diagnosed after familial screening. At 45 years of age, she had osteonecrosis of the left femurand a total hysterectomy because of uncontrollable bleeding. Atfirst evaluation, she had bone pain with a highBMB score, mild splenomegaly, normal hemoglobin, normal platelets count, elevated chitotriosidase activity,and low glucocerebrosidase activity. Both patients were found to be compound heterozygotes for thep.Glu388Lys and the p.Ser405Asn variants inGBA1.Conclusions:This is thefirst family with GD and this combination of variants which causes a phenotype re-markable for severe bone disease with no or mild hematological manifestations. |
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Paskulin, Lívia D'AvilaStarosta, Rodrigo TzovenosZizemer, Vitória SchüttBasgalupp, Suelen PortoBertholdo, DéboraVairo, Filippo Pinto eSiebert, MarinaTirelli, Kristiane MichelinSchwartz, Ida Vanessa Doederlein2021-11-25T04:38:13Z20192214-4269http://hdl.handle.net/10183/232194001133094Introduction:Gaucher disease (GD) type 1 is a lysosomal disease characterised by hepatosplenomegaly, anemia,thrombocytopenia, bone changes, and bone marrow infiltration. The disease is caused by biallelic pathogenicvariants inGBA1which codes for glucocerebrosidase, an enzyme involved in the catabolic pathway of complexlipids.Aims:To report on the case of two sisters with GD type 1 who bear a genotype never reported in the literature.Case report:Patient 1 is a 47-year-old female diagnosed at 42 years of age with chronic lumbar pain, mildsplenomegaly, slightly reduced platelets and normal hemoglobin values, severe Bone Marrow Burden (BMB)score, high chitotriosidase activity, and low glucocerebrosidase. Patient 2 is a 50-year-old female, sister of pa-tient 1, who was diagnosed after familial screening. At 45 years of age, she had osteonecrosis of the left femurand a total hysterectomy because of uncontrollable bleeding. Atfirst evaluation, she had bone pain with a highBMB score, mild splenomegaly, normal hemoglobin, normal platelets count, elevated chitotriosidase activity,and low glucocerebrosidase activity. Both patients were found to be compound heterozygotes for thep.Glu388Lys and the p.Ser405Asn variants inGBA1.Conclusions:This is thefirst family with GD and this combination of variants which causes a phenotype re-markable for severe bone disease with no or mild hematological manifestations.application/pdfengMolecular genetics and metabolism reports. Amsterdam. Vol. 21 (2019), 100544, 6 p.GenótipoFenótipoDoença de GaucherDoenças ósseasGaucher diseaseGBA1Bone diseaseGenotypePhenotypeRare GBA1 genotype associated with severe bone disease in Gaucher disease type 1Estrangeiroinfo:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/openAccessreponame:Repositório Institucional da UFRGSinstname:Universidade Federal do Rio Grande do Sul (UFRGS)instacron:UFRGSTEXT001133094.pdf.txt001133094.pdf.txtExtracted Texttext/plain24362http://www.lume.ufrgs.br/bitstream/10183/232194/2/001133094.pdf.txt048cdb9afa95ff63c6db92862210fc83MD52ORIGINAL001133094.pdfTexto completo (inglês)application/pdf1066377http://www.lume.ufrgs.br/bitstream/10183/232194/1/001133094.pdfc1fb503b009cf48b0420a5cdf24e92cfMD5110183/2321942021-12-06 05:42:09.915498oai:www.lume.ufrgs.br:10183/232194Repositório de PublicaçõesPUBhttps://lume.ufrgs.br/oai/requestopendoar:2021-12-06T07:42:09Repositório Institucional da UFRGS - Universidade Federal do Rio Grande do Sul (UFRGS)false |
dc.title.pt_BR.fl_str_mv |
Rare GBA1 genotype associated with severe bone disease in Gaucher disease type 1 |
title |
Rare GBA1 genotype associated with severe bone disease in Gaucher disease type 1 |
spellingShingle |
Rare GBA1 genotype associated with severe bone disease in Gaucher disease type 1 Paskulin, Lívia D'Avila Genótipo Fenótipo Doença de Gaucher Doenças ósseas Gaucher disease GBA1 Bone disease Genotype Phenotype |
title_short |
Rare GBA1 genotype associated with severe bone disease in Gaucher disease type 1 |
title_full |
Rare GBA1 genotype associated with severe bone disease in Gaucher disease type 1 |
title_fullStr |
Rare GBA1 genotype associated with severe bone disease in Gaucher disease type 1 |
title_full_unstemmed |
Rare GBA1 genotype associated with severe bone disease in Gaucher disease type 1 |
title_sort |
Rare GBA1 genotype associated with severe bone disease in Gaucher disease type 1 |
author |
Paskulin, Lívia D'Avila |
author_facet |
Paskulin, Lívia D'Avila Starosta, Rodrigo Tzovenos Zizemer, Vitória Schütt Basgalupp, Suelen Porto Bertholdo, Débora Vairo, Filippo Pinto e Siebert, Marina Tirelli, Kristiane Michelin Schwartz, Ida Vanessa Doederlein |
author_role |
author |
author2 |
Starosta, Rodrigo Tzovenos Zizemer, Vitória Schütt Basgalupp, Suelen Porto Bertholdo, Débora Vairo, Filippo Pinto e Siebert, Marina Tirelli, Kristiane Michelin Schwartz, Ida Vanessa Doederlein |
author2_role |
author author author author author author author author |
dc.contributor.author.fl_str_mv |
Paskulin, Lívia D'Avila Starosta, Rodrigo Tzovenos Zizemer, Vitória Schütt Basgalupp, Suelen Porto Bertholdo, Débora Vairo, Filippo Pinto e Siebert, Marina Tirelli, Kristiane Michelin Schwartz, Ida Vanessa Doederlein |
dc.subject.por.fl_str_mv |
Genótipo Fenótipo Doença de Gaucher Doenças ósseas |
topic |
Genótipo Fenótipo Doença de Gaucher Doenças ósseas Gaucher disease GBA1 Bone disease Genotype Phenotype |
dc.subject.eng.fl_str_mv |
Gaucher disease GBA1 Bone disease Genotype Phenotype |
description |
Introduction:Gaucher disease (GD) type 1 is a lysosomal disease characterised by hepatosplenomegaly, anemia,thrombocytopenia, bone changes, and bone marrow infiltration. The disease is caused by biallelic pathogenicvariants inGBA1which codes for glucocerebrosidase, an enzyme involved in the catabolic pathway of complexlipids.Aims:To report on the case of two sisters with GD type 1 who bear a genotype never reported in the literature.Case report:Patient 1 is a 47-year-old female diagnosed at 42 years of age with chronic lumbar pain, mildsplenomegaly, slightly reduced platelets and normal hemoglobin values, severe Bone Marrow Burden (BMB)score, high chitotriosidase activity, and low glucocerebrosidase. Patient 2 is a 50-year-old female, sister of pa-tient 1, who was diagnosed after familial screening. At 45 years of age, she had osteonecrosis of the left femurand a total hysterectomy because of uncontrollable bleeding. Atfirst evaluation, she had bone pain with a highBMB score, mild splenomegaly, normal hemoglobin, normal platelets count, elevated chitotriosidase activity,and low glucocerebrosidase activity. Both patients were found to be compound heterozygotes for thep.Glu388Lys and the p.Ser405Asn variants inGBA1.Conclusions:This is thefirst family with GD and this combination of variants which causes a phenotype re-markable for severe bone disease with no or mild hematological manifestations. |
publishDate |
2019 |
dc.date.issued.fl_str_mv |
2019 |
dc.date.accessioned.fl_str_mv |
2021-11-25T04:38:13Z |
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Estrangeiro info:eu-repo/semantics/article |
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publishedVersion |
dc.identifier.uri.fl_str_mv |
http://hdl.handle.net/10183/232194 |
dc.identifier.issn.pt_BR.fl_str_mv |
2214-4269 |
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001133094 |
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2214-4269 001133094 |
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http://hdl.handle.net/10183/232194 |
dc.language.iso.fl_str_mv |
eng |
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eng |
dc.relation.ispartof.pt_BR.fl_str_mv |
Molecular genetics and metabolism reports. Amsterdam. Vol. 21 (2019), 100544, 6 p. |
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info:eu-repo/semantics/openAccess |
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openAccess |
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