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
- Institución
- Consejo Nacional de Investigaciones Científicas y Técnicas
- OAI Identificador
- oai:ri.conicet.gov.ar:11336/151979
Ver los metadatos del registro completo
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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 Técnicas2025-09-29T10:03:21Zoai: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:34982025-09-29 10:03:21.547CONICET 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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1844613848769757184 |
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13.070432 |