Fabry pedigree analysis: A successful program for targeted genetic approach

Autores
Rozenfeld, Paula Adriana; Masllorens, Francisca M.; Roa, Norma; Rodriguez, Fernanda; Bonnano, Mariela; Yvorra, Carolina; Ceci, Romina
Año de publicación
2019
Idioma
inglés
Tipo de recurso
artículo
Estado
versión publicada
Descripción
Background: Fabry disease (FD) is an X-linked disorder of glycosphingolipid catabolism caused by a deficiency of the lysosomal enzyme alpha-galactosidase A (GLA). FD is still an underdiagnosed disorder worldwide. Moreover, there is delay between symptom onset and Fabry diagnosis of at least 10 years. Family screening offers an important benefit for detection of new patients. The aim of this work is to present the approach along with the results of a targeted genetic strategy for pedigree analysis for FD in Argentina. Methods: By this strategy as soon as a new index Fabry patient is diagnosed, the pedigree group contacts the physician and a meeting is arranged with the physician and the family to build the family tree. Results: Pedigree analysis was carried out for full in 31 families. In the work period, we have tested 1,462 relatives, and 501 were diagnosed FD. The proportion of positive detection was 33%. Conclusion: The targeted family screening approach is successful to detect undiagnosed Fabry patients. By this approach, the highest ratio index to pedigree ever reported for FD pedigree analysis of 1:15 was obtained.
Fil: Rozenfeld, Paula Adriana. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - La Plata. Instituto de Estudios Inmunológicos y Fisiopatológicos. Universidad Nacional de La Plata. Facultad de Ciencias Exactas. Instituto de Estudios Inmunológicos y Fisiopatológicos; Argentina
Fil: Masllorens, Francisca M.. Hospital Posadas; Argentina
Fil: Roa, Norma. Azistia; Argentina
Fil: Rodriguez, Fernanda. Azistia; Argentina
Fil: Bonnano, Mariela. Shire. Atencion de Pacientes; Argentina
Fil: Yvorra, Carolina. Shire. Atencion de Pacientes; Argentina
Fil: Ceci, Romina. Universidad Nacional de La Plata. Facultad de Ciencias Exactas; Argentina
Materia
DIAGNOSIS
FABRY DISEASE
FAMILY TREE
PEDIGREE
X-LINKED
Nivel de accesibilidad
acceso abierto
Condiciones de uso
https://creativecommons.org/licenses/by/2.5/ar/
Repositorio
CONICET Digital (CONICET)
Institución
Consejo Nacional de Investigaciones Científicas y Técnicas
OAI Identificador
oai:ri.conicet.gov.ar:11336/151979
Acceder
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network_acronym_str CONICETDig
repository_id_str 3498
network_name_str CONICET Digital (CONICET)
spelling Fabry pedigree analysis: A successful program for targeted genetic approachRozenfeld, Paula AdrianaMasllorens, Francisca M.Roa, NormaRodriguez, FernandaBonnano, MarielaYvorra, CarolinaCeci, RominaDIAGNOSISFABRY DISEASEFAMILY TREEPEDIGREEX-LINKEDhttps://purl.org/becyt/ford/3.1https://purl.org/becyt/ford/3Background: Fabry disease (FD) is an X-linked disorder of glycosphingolipid catabolism caused by a deficiency of the lysosomal enzyme alpha-galactosidase A (GLA). FD is still an underdiagnosed disorder worldwide. Moreover, there is delay between symptom onset and Fabry diagnosis of at least 10 years. Family screening offers an important benefit for detection of new patients. The aim of this work is to present the approach along with the results of a targeted genetic strategy for pedigree analysis for FD in Argentina. Methods: By this strategy as soon as a new index Fabry patient is diagnosed, the pedigree group contacts the physician and a meeting is arranged with the physician and the family to build the family tree. Results: Pedigree analysis was carried out for full in 31 families. In the work period, we have tested 1,462 relatives, and 501 were diagnosed FD. The proportion of positive detection was 33%. Conclusion: The targeted family screening approach is successful to detect undiagnosed Fabry patients. By this approach, the highest ratio index to pedigree ever reported for FD pedigree analysis of 1:15 was obtained.Fil: Rozenfeld, Paula Adriana. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - La Plata. Instituto de Estudios Inmunológicos y Fisiopatológicos. Universidad Nacional de La Plata. Facultad de Ciencias Exactas. Instituto de Estudios Inmunológicos y Fisiopatológicos; ArgentinaFil: Masllorens, Francisca M.. Hospital Posadas; ArgentinaFil: Roa, Norma. Azistia; ArgentinaFil: Rodriguez, Fernanda. Azistia; ArgentinaFil: Bonnano, Mariela. Shire. Atencion de Pacientes; ArgentinaFil: Yvorra, Carolina. Shire. Atencion de Pacientes; ArgentinaFil: Ceci, Romina. Universidad Nacional de La Plata. Facultad de Ciencias Exactas; ArgentinaJohn Wiley & Sons Inc.2019-07info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersionhttp://purl.org/coar/resource_type/c_6501info:ar-repo/semantics/articuloapplication/pdfapplication/pdfhttp://hdl.handle.net/11336/151979Rozenfeld, Paula Adriana; Masllorens, Francisca M.; Roa, Norma; Rodriguez, Fernanda; Bonnano, Mariela; et al.; Fabry pedigree analysis: A successful program for targeted genetic approach; John Wiley & Sons Inc.; Molecular Genetics & Genomic Medicine; 7; 7; 7-2019; 1-42324-9269CONICET DigitalCONICETenginfo:eu-repo/semantics/altIdentifier/doi/10.1002/mgg3.794info:eu-repo/semantics/altIdentifier/url/https://onlinelibrary.wiley.com/doi/10.1002/mgg3.794info:eu-repo/semantics/openAccesshttps://creativecommons.org/licenses/by/2.5/ar/reponame:CONICET Digital (CONICET)instname:Consejo Nacional de Investigaciones Científicas y Técnicas2025-10-22T11:33:08Zoai:ri.conicet.gov.ar:11336/151979instacron:CONICETInstitucionalhttp://ri.conicet.gov.ar/Organismo científico-tecnológicoNo correspondehttp://ri.conicet.gov.ar/oai/requestdasensio@conicet.gov.ar; lcarlino@conicet.gov.arArgentinaNo correspondeNo correspondeNo correspondeopendoar:34982025-10-22 11:33:09.235CONICET Digital (CONICET) - Consejo Nacional de Investigaciones Científicas y Técnicasfalse
dc.title.none.fl_str_mv Fabry pedigree analysis: A successful program for targeted genetic approach
title Fabry pedigree analysis: A successful program for targeted genetic approach
spellingShingle Fabry pedigree analysis: A successful program for targeted genetic approach
Rozenfeld, Paula Adriana
DIAGNOSIS
FABRY DISEASE
FAMILY TREE
PEDIGREE
X-LINKED
title_short Fabry pedigree analysis: A successful program for targeted genetic approach
title_full Fabry pedigree analysis: A successful program for targeted genetic approach
title_fullStr Fabry pedigree analysis: A successful program for targeted genetic approach
title_full_unstemmed Fabry pedigree analysis: A successful program for targeted genetic approach
title_sort Fabry pedigree analysis: A successful program for targeted genetic approach
dc.creator.none.fl_str_mv Rozenfeld, Paula Adriana
Masllorens, Francisca M.
Roa, Norma
Rodriguez, Fernanda
Bonnano, Mariela
Yvorra, Carolina
Ceci, Romina
author Rozenfeld, Paula Adriana
author_facet Rozenfeld, Paula Adriana
Masllorens, Francisca M.
Roa, Norma
Rodriguez, Fernanda
Bonnano, Mariela
Yvorra, Carolina
Ceci, Romina
author_role author
author2 Masllorens, Francisca M.
Roa, Norma
Rodriguez, Fernanda
Bonnano, Mariela
Yvorra, Carolina
Ceci, Romina
author2_role author
author
author
author
author
author
dc.subject.none.fl_str_mv DIAGNOSIS
FABRY DISEASE
FAMILY TREE
PEDIGREE
X-LINKED
topic DIAGNOSIS
FABRY DISEASE
FAMILY TREE
PEDIGREE
X-LINKED
purl_subject.fl_str_mv https://purl.org/becyt/ford/3.1
https://purl.org/becyt/ford/3
dc.description.none.fl_txt_mv Background: Fabry disease (FD) is an X-linked disorder of glycosphingolipid catabolism caused by a deficiency of the lysosomal enzyme alpha-galactosidase A (GLA). FD is still an underdiagnosed disorder worldwide. Moreover, there is delay between symptom onset and Fabry diagnosis of at least 10 years. Family screening offers an important benefit for detection of new patients. The aim of this work is to present the approach along with the results of a targeted genetic strategy for pedigree analysis for FD in Argentina. Methods: By this strategy as soon as a new index Fabry patient is diagnosed, the pedigree group contacts the physician and a meeting is arranged with the physician and the family to build the family tree. Results: Pedigree analysis was carried out for full in 31 families. In the work period, we have tested 1,462 relatives, and 501 were diagnosed FD. The proportion of positive detection was 33%. Conclusion: The targeted family screening approach is successful to detect undiagnosed Fabry patients. By this approach, the highest ratio index to pedigree ever reported for FD pedigree analysis of 1:15 was obtained.
Fil: Rozenfeld, Paula Adriana. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - La Plata. Instituto de Estudios Inmunológicos y Fisiopatológicos. Universidad Nacional de La Plata. Facultad de Ciencias Exactas. Instituto de Estudios Inmunológicos y Fisiopatológicos; Argentina
Fil: Masllorens, Francisca M.. Hospital Posadas; Argentina
Fil: Roa, Norma. Azistia; Argentina
Fil: Rodriguez, Fernanda. Azistia; Argentina
Fil: Bonnano, Mariela. Shire. Atencion de Pacientes; Argentina
Fil: Yvorra, Carolina. Shire. Atencion de Pacientes; Argentina
Fil: Ceci, Romina. Universidad Nacional de La Plata. Facultad de Ciencias Exactas; Argentina
description Background: Fabry disease (FD) is an X-linked disorder of glycosphingolipid catabolism caused by a deficiency of the lysosomal enzyme alpha-galactosidase A (GLA). FD is still an underdiagnosed disorder worldwide. Moreover, there is delay between symptom onset and Fabry diagnosis of at least 10 years. Family screening offers an important benefit for detection of new patients. The aim of this work is to present the approach along with the results of a targeted genetic strategy for pedigree analysis for FD in Argentina. Methods: By this strategy as soon as a new index Fabry patient is diagnosed, the pedigree group contacts the physician and a meeting is arranged with the physician and the family to build the family tree. Results: Pedigree analysis was carried out for full in 31 families. In the work period, we have tested 1,462 relatives, and 501 were diagnosed FD. The proportion of positive detection was 33%. Conclusion: The targeted family screening approach is successful to detect undiagnosed Fabry patients. By this approach, the highest ratio index to pedigree ever reported for FD pedigree analysis of 1:15 was obtained.
publishDate 2019
dc.date.none.fl_str_mv 2019-07
dc.type.none.fl_str_mv info:eu-repo/semantics/article
info:eu-repo/semantics/publishedVersion
http://purl.org/coar/resource_type/c_6501
info:ar-repo/semantics/articulo
format article
status_str publishedVersion
dc.identifier.none.fl_str_mv http://hdl.handle.net/11336/151979
Rozenfeld, Paula Adriana; Masllorens, Francisca M.; Roa, Norma; Rodriguez, Fernanda; Bonnano, Mariela; et al.; Fabry pedigree analysis: A successful program for targeted genetic approach; John Wiley & Sons Inc.; Molecular Genetics & Genomic Medicine; 7; 7; 7-2019; 1-4
2324-9269
CONICET Digital
CONICET
url http://hdl.handle.net/11336/151979
identifier_str_mv Rozenfeld, Paula Adriana; Masllorens, Francisca M.; Roa, Norma; Rodriguez, Fernanda; Bonnano, Mariela; et al.; Fabry pedigree analysis: A successful program for targeted genetic approach; John Wiley & Sons Inc.; Molecular Genetics & Genomic Medicine; 7; 7; 7-2019; 1-4
2324-9269
CONICET Digital
CONICET
dc.language.none.fl_str_mv eng
language eng
dc.relation.none.fl_str_mv info:eu-repo/semantics/altIdentifier/doi/10.1002/mgg3.794
info:eu-repo/semantics/altIdentifier/url/https://onlinelibrary.wiley.com/doi/10.1002/mgg3.794
dc.rights.none.fl_str_mv info:eu-repo/semantics/openAccess
https://creativecommons.org/licenses/by/2.5/ar/
eu_rights_str_mv openAccess
rights_invalid_str_mv https://creativecommons.org/licenses/by/2.5/ar/
dc.format.none.fl_str_mv application/pdf
application/pdf
dc.publisher.none.fl_str_mv John Wiley & Sons Inc.
publisher.none.fl_str_mv John Wiley & Sons Inc.
dc.source.none.fl_str_mv reponame:CONICET Digital (CONICET)
instname:Consejo Nacional de Investigaciones Científicas y Técnicas
reponame_str CONICET Digital (CONICET)
collection CONICET Digital (CONICET)
instname_str Consejo Nacional de Investigaciones Científicas y Técnicas
repository.name.fl_str_mv CONICET Digital (CONICET) - Consejo Nacional de Investigaciones Científicas y Técnicas
repository.mail.fl_str_mv dasensio@conicet.gov.ar; lcarlino@conicet.gov.ar
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score 12.982451

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