Fabry pedigree analysis: A successful program for targeted genetic approach

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 o...

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Autores principales: Rozenfeld, Paula Adriana, Masllorens, Francisca M., Roa, Norma, Rodriguez, Fernanda, Bonnano, Mariela, Yvorra, Carolina, Ceci, Romina
Formato: Articulo
Lenguaje:Inglés
Publicado: 2019
Materias:
Ciencias Exactas
Ciencias Médicas
diagnosis
Fabry disease
family tree
pedigree
X‐linked
Acceso en línea:http://sedici.unlp.edu.ar/handle/10915/107837
http://europepmc.org/backend/ptpmcrender.fcgi?accid=PMC6625140&blobtype=pdf
https://onlinelibrary.wiley.com/doi/10.1002/mgg3.794
Aporte de:
SEDICI (UNLP) de Universidad Nacional de La Plata
id I19-R120-10915-107837
record_format dspace
institution Universidad Nacional de La Plata
institution_str I-19
repository_str R-120
collection SEDICI (UNLP)
language Inglés
topic Ciencias Exactas
Ciencias Médicas
diagnosis
Fabry disease
family tree
pedigree
X‐linked
spellingShingle Ciencias Exactas
Ciencias Médicas
diagnosis
Fabry disease
family tree
pedigree
X‐linked
Rozenfeld, Paula Adriana
Masllorens, Francisca M.
Roa, Norma
Rodriguez, Fernanda
Bonnano, Mariela
Yvorra, Carolina
Ceci, Romina
Fabry pedigree analysis: A successful program for targeted genetic approach
topic_facet Ciencias Exactas
Ciencias Médicas
diagnosis
Fabry disease
family tree
pedigree
X‐linked
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.
format Articulo
Articulo
author Rozenfeld, Paula Adriana
Masllorens, Francisca M.
Roa, Norma
Rodriguez, Fernanda
Bonnano, Mariela
Yvorra, Carolina
Ceci, Romina
author_facet Rozenfeld, Paula Adriana
Masllorens, Francisca M.
Roa, Norma
Rodriguez, Fernanda
Bonnano, Mariela
Yvorra, Carolina
Ceci, Romina
author_sort Rozenfeld, Paula Adriana
title Fabry pedigree analysis: A successful program for targeted genetic approach
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
publishDate 2019
url http://sedici.unlp.edu.ar/handle/10915/107837
http://europepmc.org/backend/ptpmcrender.fcgi?accid=PMC6625140&blobtype=pdf
https://onlinelibrary.wiley.com/doi/10.1002/mgg3.794
work_keys_str_mv AT rozenfeldpaulaadriana fabrypedigreeanalysisasuccessfulprogramfortargetedgeneticapproach
AT masllorensfranciscam fabrypedigreeanalysisasuccessfulprogramfortargetedgeneticapproach
AT roanorma fabrypedigreeanalysisasuccessfulprogramfortargetedgeneticapproach
AT rodriguezfernanda fabrypedigreeanalysisasuccessfulprogramfortargetedgeneticapproach
AT bonnanomariela fabrypedigreeanalysisasuccessfulprogramfortargetedgeneticapproach
AT yvorracarolina fabrypedigreeanalysisasuccessfulprogramfortargetedgeneticapproach
AT ceciromina fabrypedigreeanalysisasuccessfulprogramfortargetedgeneticapproach
bdutipo_str Repositorios
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