Genetic testing and evidence of a founder mutation in a hotspot for hereditary transthyretin amyloidosis

This study compiles 23 years of genetic testing data from the Balearic Islands public health system to examine the prevalence and distribution of pathogenic TTR variants, with a particular focus on the V30M mutation. As the first registry of ATTRv amyloidosis in the region, the work highlights a unique genetic profile that may indicate a founder effect and underscores the importance of early diagnosis, informed genetic counseling, and tailored clinical management.