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
SEDICI (UNLP)
Institución
Universidad Nacional de La Plata
OAI Identificador
oai:sedici.unlp.edu.ar:10915/107837

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network_name_str SEDICI (UNLP)
spelling 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
dc.type.none.fl_str_mv info:eu-repo/semantics/article
info:eu-repo/semantics/publishedVersion
Articulo
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://sedici.unlp.edu.ar/handle/10915/107837
url http://sedici.unlp.edu.ar/handle/10915/107837
dc.language.none.fl_str_mv eng
language eng
dc.relation.none.fl_str_mv info:eu-repo/semantics/altIdentifier/url/http://europepmc.org/backend/ptpmcrender.fcgi?accid=PMC6625140&blobtype=pdf
info:eu-repo/semantics/altIdentifier/url/https://onlinelibrary.wiley.com/doi/10.1002/mgg3.794
info:eu-repo/semantics/altIdentifier/issn/2324-9269
info:eu-repo/semantics/altIdentifier/pmid/31169365
info:eu-repo/semantics/altIdentifier/doi/10.1002/mgg3.794
dc.rights.none.fl_str_mv info:eu-repo/semantics/openAccess
http://creativecommons.org/licenses/by/4.0/
Creative Commons Attribution 4.0 International (CC BY 4.0)
eu_rights_str_mv openAccess
rights_invalid_str_mv http://creativecommons.org/licenses/by/4.0/
Creative Commons Attribution 4.0 International (CC BY 4.0)
dc.format.none.fl_str_mv application/pdf
dc.source.none.fl_str_mv reponame:SEDICI (UNLP)
instname:Universidad Nacional de La Plata
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