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

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

Risultato della ricerca: Articlepeer review

14 Citazioni (Scopus)


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.
Lingua originaleEnglish
pagine (da-a)61415-61424
Numero di pagine10
Stato di pubblicazionePublished - 2017

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