Fabry pedigree analysis: a successful program for targeted genetic approach

ROZENFELD PA; RODRIGUEZ MF; CECI, R; MASLLORENS F; BONNANO M; ROA N; YVORRA C

Molecular Genetics & Genomic Medicine

wILEY

Lugar: Amsterdam; Año: 2019 vol. 7

AbstractBackground: Fabry disease (FD) is an X‐linked disorder of glycosphingolipid catabolismcaused by a deficiency of the lysosomal enzyme alpha‐galactosidase A(GLA). FD is still an underdiagnosed disorder worldwide. Moreover, there is delaybetween symptom onset and Fabry diagnosis of at least 10 years. Family screeningoffers an important benefit for detection of new patients. The aim of this work is topresent the approach along with the results of a targeted genetic strategy for pedigreeanalysis for FD in Argentina.Methods: By this strategy as soon as a new index Fabry patient is diagnosed, thepedigree group contacts the physician and a meeting is arranged with the physicianand 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 positivedetection was 33%.Conclusion: The targeted family screening approach is successful to detect undiagnosedFabry patients. By this approach, the highest ratio index to pedigree everreported for FD pedigree analysis of 1:15 was obtained.