Susen Schaake

1 Introduction Structural variants (SVs) are one of the largest contributors to genetic variation between human genomes [1, 2] and are commonly defined as alterations that exceed 50 nucleotides in length. Subtypes include deletions, duplications, and insertions of genomic sequence, as well as balanced inversions and translocations, all of which can disrupt genes and regulatory elements, contributing to complex genomic rearrangements with potentially catastrophic consequences.

Different variants in the GBA1 gene, encoding the enzyme glucocerebrosidase, either cause a monogenic form of Parkinson's disease (PD, also referred to as PARK-GBA1 by the International Parkinson and Movement Disorder Society Task Force on Genetic Nomenclature in Movement Disorders1) with reduced penetrance or act as genetic risk factors for developing PD or dementia with Lewy bodies (DLB).2-6 Biallelic pathogenic variants cause Gaucher's disease (GD), an autosomal recessive lysosomal storage...