Genotype/Phenotype Relationship Versus Therapy Optimization in a Monocentric Fabry Disease Cohort
A special issue of Genes (ISSN 2073-4425). This special issue belongs to the section "Human Genomics and Genetic Diseases".
Deadline for manuscript submissions: 20 December 2025 | Viewed by 105
Special Issue Editor
Special Issue Information
Dear Colleagues,
In Fabry disease (FD), genetic factors play a key role both in early diagnosis in potentially affected patients and in prognosis by optimizing the specific therapy timing.
The genotype/phenotype relationship is a challenge still to be elucidated.
The data are ambiguous and limited only to male patients in the FOS database registry. However, histopathological lesions from renal biopsies have revealed similar features in both sexes and in early phase. Extending the analysis to women and children will further increase our knowledge of clinical and pathological findings of Fabry disease.
Critical points to elucidate: the high proportion of de novo mutations of uncertain significance; the variable phenotype in members of the same family with the same mutation, suggesting underlying modifying factors that influence clinical presentation; familial pedigrees, to date not implemented in clinical routine.
This Special Issue represents an useful “tune-up” on the current state of knowledge on FD, in light of the suggestion that FD patients’ life expectancy may increase as more patients are beginning targeted treatment at an earlier age. In addition, FD therapeutic choices extend beyond enzyme therapy, substrate reduction therapy, and gene therapy.
Now would be the time for the scientific community to propose diagnostic and therapeutic recommendations as part of multidisciplinary networks.
Dr. Marisa Santostefano
Guest Editor
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Keywords
- genotype
- phenotype
- genomic analysis
- enzymatic therapy
- gene therapy
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