Rare GBA1 genotype associated with severe bone disease in Gaucher disease type 1

Detalhes bibliográficos
Autor(a) principal: Paskulin, Lívia D'Avila
Data de Publicação: 2019
Outros Autores: Starosta, Rodrigo Tzovenos, Zizemer, Vitória Schütt, Basgalupp, Suelen Porto, Bertholdo, Débora, Vairo, Filippo Pinto e, Siebert, Marina, Tirelli, Kristiane Michelin, Schwartz, Ida Vanessa Doederlein
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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spelling 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
dc.type.driver.fl_str_mv Estrangeiro
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dc.identifier.issn.pt_BR.fl_str_mv 2214-4269
dc.identifier.nrb.pt_BR.fl_str_mv 001133094
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dc.language.iso.fl_str_mv eng
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dc.relation.ispartof.pt_BR.fl_str_mv Molecular genetics and metabolism reports. Amsterdam. Vol. 21 (2019), 100544, 6 p.
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eu_rights_str_mv openAccess
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instname:Universidade Federal do Rio Grande do Sul (UFRGS)
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