Article
Pathogenic Variants in Mennonites From Southern Brazil: Implications for Preventive Measures in Public Health.
Clinical genetics - 1 Feb 2026
Mayer de Lima Luiza Beatriz, Auer Eduardo Delabio, Dall'Oglio Bucco Isabela, Hoch Valéria Bumiller-Bini, Dos Santos Priscila Ianzen, Lopes Fabiana L, Shuldiner Alan, Júnior Emilton Lima, Boldt Angelica Beate Winter
Abstract excerpt
The Mennonite population has a unique history of 500 years of genetic isolation shaped by at least three demographic bottlenecks, founder effects, inbreeding, epidemics, and migrations. To evaluate their susceptibility for monogenic diseases (MD), we performed whole-exome sequencing on 325 volunteers from two South Brazilian Mennonite settlements (one urban and another rural). We identified 23 pathogenic variants...
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