Gaucher disease: Biochemical and molecular findings in 141 patients diagnosed in Greece.

Gaucher disease (GD) is characterized by a marked phenotypic and genetic diversity. It is caused by the functional deficiency of the lysosomal enzyme ß-glucocerebrosidase (GCase), which in most instances results from mutations in the GBA1 gene and over 500 different disease causing mutations have be...

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Autores: Dimitriou E, Moraitou M, Cozar M, Serra-Vinardell J, Vilageliu L, Grinberg D, Mavridou I, Michelakakis H
Tipo de recurso: artículo
Estado:Versión publicada
Fecha de publicación:2020
País:España
Institución:Fundació Sant Joan de Déu
Repositorio:r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
OAI Identifier:oai:fsjd.fundanetsuite.com:p17877
Acceso en línea:https://fsjd.fundanetsuite.com/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=17877
Access Level:acceso abierto
Palabra clave:GBA
GBA1, Glucocerebrosidase gene
GCase, ß-Glucocerebrosidase
GD
GD, Gaucher disease
Gaucher disease
Glucocerebrosidase
Greek
Mutation analysis
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spelling Gaucher disease: Biochemical and molecular findings in 141 patients diagnosed in Greece.Dimitriou EMoraitou MCozar MSerra-Vinardell JVilageliu LGrinberg DMavridou IMichelakakis HGBAGBA1, Glucocerebrosidase geneGCase, ß-GlucocerebrosidaseGDGD, Gaucher diseaseGaucher diseaseGlucocerebrosidaseGreekMutation analysisGaucher disease (GD) is characterized by a marked phenotypic and genetic diversity. It is caused by the functional deficiency of the lysosomal enzyme ß-glucocerebrosidase (GCase), which in most instances results from mutations in the GBA1 gene and over 500 different disease causing mutations have been described. We present the biochemical and molecular findings in 141 GD cases (14 were siblings) with the three types of the disorder diagnosed in Greece over the last 35 years. 111/141 (78%) GD patients were of Greek origin. The remaining patients were Albanian (24/141; 17%), Syrian (2/141; 1.4%), Egyptian (2/141; 1.4%), Italian (1/141; 0.7%) and Polish (1/141; 0.7%). Mutation analysis identified 28 different mutations and 37 different genotypes. Seven of the mutations were not previously reported (T231I, D283N, N462Y, LI75P, F81L, Y135S and T482K). The most frequent mutations were N370S, D409H;H255Q and L444P. Mutation D409H;H255Q was only identified in Greek and Albanian patients. Sixteen mutations, including the novel ones, were identified only in one allele. Although the N370S mutation was identified only in type 1 patients, not all of type 1 patients carried this mutation. Our results highlight the heterogeneity of Gaucher disease and support the Balkan origin of the double mutant allele D409H;H255Q.ELSEVIER2020info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersionhttps://fsjd.fundanetsuite.com/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=17877Molecular Genetics and Metabolism ReportsISSN: 22144269reponame:r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déuinstname:Fundació Sant Joan de DéuInglésinfo:eu-repo/semantics/openAccessoai:fsjd.fundanetsuite.com:p178772026-05-27T12:37:41Z
dc.title.none.fl_str_mv Gaucher disease: Biochemical and molecular findings in 141 patients diagnosed in Greece.
title Gaucher disease: Biochemical and molecular findings in 141 patients diagnosed in Greece.
spellingShingle Gaucher disease: Biochemical and molecular findings in 141 patients diagnosed in Greece.
Dimitriou E
GBA
GBA1, Glucocerebrosidase gene
GCase, ß-Glucocerebrosidase
GD
GD, Gaucher disease
Gaucher disease
Glucocerebrosidase
Greek
Mutation analysis
title_short Gaucher disease: Biochemical and molecular findings in 141 patients diagnosed in Greece.
title_full Gaucher disease: Biochemical and molecular findings in 141 patients diagnosed in Greece.
title_fullStr Gaucher disease: Biochemical and molecular findings in 141 patients diagnosed in Greece.
title_full_unstemmed Gaucher disease: Biochemical and molecular findings in 141 patients diagnosed in Greece.
title_sort Gaucher disease: Biochemical and molecular findings in 141 patients diagnosed in Greece.
dc.creator.none.fl_str_mv Dimitriou E
Moraitou M
Cozar M
Serra-Vinardell J
Vilageliu L
Grinberg D
Mavridou I
Michelakakis H
author Dimitriou E
author_facet Dimitriou E
Moraitou M
Cozar M
Serra-Vinardell J
Vilageliu L
Grinberg D
Mavridou I
Michelakakis H
author_role author
author2 Moraitou M
Cozar M
Serra-Vinardell J
Vilageliu L
Grinberg D
Mavridou I
Michelakakis H
author2_role author
author
author
author
author
author
author
dc.subject.none.fl_str_mv GBA
GBA1, Glucocerebrosidase gene
GCase, ß-Glucocerebrosidase
GD
GD, Gaucher disease
Gaucher disease
Glucocerebrosidase
Greek
Mutation analysis
topic GBA
GBA1, Glucocerebrosidase gene
GCase, ß-Glucocerebrosidase
GD
GD, Gaucher disease
Gaucher disease
Glucocerebrosidase
Greek
Mutation analysis
description Gaucher disease (GD) is characterized by a marked phenotypic and genetic diversity. It is caused by the functional deficiency of the lysosomal enzyme ß-glucocerebrosidase (GCase), which in most instances results from mutations in the GBA1 gene and over 500 different disease causing mutations have been described. We present the biochemical and molecular findings in 141 GD cases (14 were siblings) with the three types of the disorder diagnosed in Greece over the last 35 years. 111/141 (78%) GD patients were of Greek origin. The remaining patients were Albanian (24/141; 17%), Syrian (2/141; 1.4%), Egyptian (2/141; 1.4%), Italian (1/141; 0.7%) and Polish (1/141; 0.7%). Mutation analysis identified 28 different mutations and 37 different genotypes. Seven of the mutations were not previously reported (T231I, D283N, N462Y, LI75P, F81L, Y135S and T482K). The most frequent mutations were N370S, D409H;H255Q and L444P. Mutation D409H;H255Q was only identified in Greek and Albanian patients. Sixteen mutations, including the novel ones, were identified only in one allele. Although the N370S mutation was identified only in type 1 patients, not all of type 1 patients carried this mutation. Our results highlight the heterogeneity of Gaucher disease and support the Balkan origin of the double mutant allele D409H;H255Q.
publishDate 2020
dc.date.none.fl_str_mv 2020
dc.type.none.fl_str_mv info:eu-repo/semantics/article
info:eu-repo/semantics/publishedVersion
format article
status_str publishedVersion
dc.identifier.none.fl_str_mv https://fsjd.fundanetsuite.com/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=17877
url https://fsjd.fundanetsuite.com/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=17877
dc.language.none.fl_str_mv Inglés
language_invalid_str_mv Inglés
dc.rights.none.fl_str_mv info:eu-repo/semantics/openAccess
eu_rights_str_mv openAccess
dc.publisher.none.fl_str_mv ELSEVIER
publisher.none.fl_str_mv ELSEVIER
dc.source.none.fl_str_mv Molecular Genetics and Metabolism Reports
ISSN: 22144269
reponame:r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname:Fundació Sant Joan de Déu
instname_str Fundació Sant Joan de Déu
reponame_str r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
collection r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
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