Palindrome-mediated 16p13.3 triplications cause a recognizable neurodegenerative disorder with ataxia

Fasham and colleagues report a palindrome-mediated genomic disorder causing a recognizable, severe phenotype marked by early-onset progressive ataxia, cognitive decline, and cerebellar atrophy. Microarray and short/long-read genome sequencing uncovered overlapping inverted duplication-triplications on 16p13.3. RNA-seq showed upregulation of multiple genes within the variant, with ATP6V0C showing the most significant increase.