AUTHOR=Panzeri Elena , Citterio Andrea , Martinuzzi Andrea , Ancona Vera , Martini Eleonora , Bassi Maria Teresa TITLE=Case report: A novel FARS2 deletion and a missense variant in a child with complicated, rapidly progressive spastic paraplegia JOURNAL=Frontiers in Genetics VOLUME=14 YEAR=2023 URL=https://www.frontiersin.org/journals/genetics/articles/10.3389/fgene.2023.1130687 DOI=10.3389/fgene.2023.1130687 ISSN=1664-8021 ABSTRACT=

Defects in FARS2 are associated with either epileptic phenotypes or a spastic paraplegia subtype known as SPG77. Here, we describe an 8-year-old patient with severe and complicated spastic paraplegia, carrying a missense variant (p.Pro361Leu) and a novel intragenic deletion in FARS2. Of note, the disease is unexpectedly progressing rapidly and in a biphasic way differently from the previously reported cases. Our study provides the first detailed molecular characterization of a FARS2 deletion and its underlying molecular mechanism, and demonstrates the need for combining different tools to improve the diagnostic rate.