Founder effect of Fabry disease due to p.F113L mutation: Clinical profile of a late-onset phenotype

An expert consensus document on the management of cardiovascular manifestations of Fabry disease

“…Fabry disease affects all ethnicities, with some geographical clusters based on founder mutations 39–41 . The reported prevalence of FD varies according to the screening method employed.…”

Parkinson’s Disease and Fabry Disease: Clinical, Biochemical and Neuroimaging Analysis of Three Pedigrees

“…As we previously reported, the p.F113L GLA gene mutation is associated with a high burden of cardiac and CNS manifestations [25,26]. Hearing loss was a common manifestation and age-matched hearing thresholds by frequency are worse in FD than in the general population [18,25,26]. One possible explanation is that the vascular peripheral lesioning could correlate with higher CNS microvascular burden (hearing loss was correlated with microalbuminuria).…”

Fabry cardiomyopathy: missing links from genotype to phenotype

“…Azevedo et al 5 have recently documented that the c.337T>C variant is associated with a late-onset cardiomyopathy, very similar to that associated with c.472G>A, in >40% of 120 patients in a pedigree originating from Guimarães, Portugal. Lin et al 6 have reported that 1 in 1600 newborns in Taiwan harbour an intronic variant in GLA associated with late-onset cardiomyopathy.…”