Reports Outline Joubert Syndrome Study Findings from University of Pavia (Recurrent, Founder and Hypomorphic Variants Contribute To the Genetic Landscape of Joubert Syndrome).

A study conducted at the University of Pavia in Italy focused on Joubert Syndrome (JS), a neurodevelopmental ciliopathy characterized by a mid-hindbrain malformation. The research identified recurring, founder, and hypomorphic variants contributing to the genetic landscape of JS, with 11 recurring variants in seven genes and the presence of novel European founder haplotypes. The study aimed to understand the genetic complexity of JS, its variable prevalence in different regions, and characterize two recurrent hypomorphic variants. The findings were published in the Journal of Medical Genetics and have been peer-reviewed. [Extracted from the article]