Inter-familial and intra-familial phenotypic variability in three Sicilian families with Anderson-Fabry disease.

Vittoriano Della Corte, Irene Simonetta, Rosaria Pecoraro, Rosario Scaglione, Tiziana Di Chiara, Francesca Corpora, Antonino Tuttolomondo, Antonio Pinto, Carmela Zizzo, Antonia Nucera, Paolo Colomba, Giovanni Duro, Danai Vogiatzis, Giovanni Duro, Mario Daidone

Research output: Contribution to journalArticle

5 Citations (Scopus)

Abstract

AbstractBACKGROUND: Anderson-Fabry disease (AFD) is an inborn lysosomal enzymopathy resulting from the deficient or absent activity of the lysosomal exogalactohydrolase, α-galactosidase A. This deficiency, results in the altered metabolism of glycosphingolipids which leads to their accumulation in lysosomes, thus to cellular and vascular dysfunction. To date, numerous mutations (according to recent data more than 1000 mutations) have been reported in the GLA intronic and exonic mutations. Traditionally, clinical manifestations are more severe in affected hemizygous males than in females. Nevertheless, recent studies have described severe organ dysfunction in women.THE AIM OF THE STUDY: This study reports clinical, biochemical, and molecular findings of the members of three Sicilian families. The clinical history of these patients highlights a remarkable interfamilial and intrafamilial phenotypic variability which characterizes Fabry disease relative to target organs and severity of clinical manifestations.DISCUSSION: Our findings, in agreement with previous data, report a little genotype-phenotype correlation for the disease, suggesting that the wide phenotypic variability of Anderson-Fabry disease is not completely ascribable to different gene mutations but other factors and mechanisms seem to be involved in the pathogenesis and clinical expression of the disease. Moreover, this study emphasies the importance of pedigree analysis in the family of each proband for identifying other possibly affected relatives.
Original languageEnglish
Pages (from-to)61415-61424
Number of pages10
JournalOncotarget
Volume8
Publication statusPublished - 2017

All Science Journal Classification (ASJC) codes

  • Oncology

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