In-Depth Characterization of a Novel Disease
Alternative splicing of BUD13 determines the severity of a developmental disorder with lipodystrophy and progeroid features
Establishing a novel gene-disease link has immediate diagnostic implications, while therapeutic considerations require functional insights beyond genotype and phenotype. CENTOGENE researchers contributed to a recent study that addressed this challenge. By combining several conceptual approaches, a novel disease was not only identified and explained, but also characterized at the levels of mRNA, protein and sub-cellular morphology. The findings were published in Genetics in Medicine.