Open AccessFabry pedigree analysis: A successful program for targeted genetic approach
Author(s) -
Rozenfeld Paula A.,
Masllorens Francisca M.,
Roa Norma,
Rodriguez Fernanda,
Bonnano Mariela,
Yvorra Carolina,
Ceci Romina
Publication year - 2019
Publication title -
molecular genetics and genomic medicine
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.765
H-Index - 29
ISSN - 2324-9269
DOI - 10.1002/mgg3.794
Subject(s) - fabry disease , medicine , pedigree chart , genetic diagnosis , family health , index case , alpha galactosidase , lysosomal storage disorders , pediatrics , disease , genetic testing , genetics , biology , nursing , gene
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.