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.
Facultad de Ciencias Exactas
Instituto de Estudios Inmunológicos y Fisiopatológicos - Materia
-
Ciencias Exactas
Ciencias Médicas
diagnosis
Fabry disease
family tree
pedigree
X‐linked - Nivel de accesibilidad
- acceso abierto
- Condiciones de uso
- http://creativecommons.org/licenses/by/4.0/
- Repositorio
- Institución
- Universidad Nacional de La Plata
- OAI Identificador
- oai:sedici.unlp.edu.ar:10915/107837
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, RominaCiencias ExactasCiencias MédicasdiagnosisFabry diseasefamily treepedigreeX‐linkedBackground: Fabry disease (FD) is an X‐linked disorder of glycosphingolipid catabolism caused by a deficiency of the lysosomal enzyme alpha‐galactosidase A (<i>GLA</i>). 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.Facultad de Ciencias ExactasInstituto de Estudios Inmunológicos y Fisiopatológicos2019info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersionArticulohttp://purl.org/coar/resource_type/c_6501info:ar-repo/semantics/articuloapplication/pdfhttp://sedici.unlp.edu.ar/handle/10915/107837enginfo:eu-repo/semantics/altIdentifier/url/http://europepmc.org/backend/ptpmcrender.fcgi?accid=PMC6625140&blobtype=pdfinfo:eu-repo/semantics/altIdentifier/url/https://onlinelibrary.wiley.com/doi/10.1002/mgg3.794info:eu-repo/semantics/altIdentifier/issn/2324-9269info:eu-repo/semantics/altIdentifier/pmid/31169365info:eu-repo/semantics/altIdentifier/doi/10.1002/mgg3.794info:eu-repo/semantics/openAccesshttp://creativecommons.org/licenses/by/4.0/Creative Commons Attribution 4.0 International (CC BY 4.0)reponame:SEDICI (UNLP)instname:Universidad Nacional de La Platainstacron:UNLP2025-09-29T11:23:51Zoai:sedici.unlp.edu.ar:10915/107837Institucionalhttp://sedici.unlp.edu.ar/Universidad públicaNo correspondehttp://sedici.unlp.edu.ar/oai/snrdalira@sedici.unlp.edu.arArgentinaNo correspondeNo correspondeNo correspondeopendoar:13292025-09-29 11:23:52.119SEDICI (UNLP) - Universidad Nacional de La Platafalse |
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 Ciencias Exactas Ciencias Médicas 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 |
Ciencias Exactas Ciencias Médicas diagnosis Fabry disease family tree pedigree X‐linked |
topic |
Ciencias Exactas Ciencias Médicas diagnosis Fabry disease family tree pedigree X‐linked |
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 (<i>GLA</i>). 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. Facultad de Ciencias Exactas Instituto de Estudios Inmunológicos y Fisiopatológicos |
description |
Background: Fabry disease (FD) is an X‐linked disorder of glycosphingolipid catabolism caused by a deficiency of the lysosomal enzyme alpha‐galactosidase A (<i>GLA</i>). 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 |
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http://sedici.unlp.edu.ar/handle/10915/107837 |
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http://sedici.unlp.edu.ar/handle/10915/107837 |
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eng |
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eng |
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openAccess |
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http://creativecommons.org/licenses/by/4.0/ Creative Commons Attribution 4.0 International (CC BY 4.0) |
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