Variants in EXOSC9 Disrupt the RNA Exosome and Result in Cerebellar Atrophy with Spinal Motor Neuronopathy

The exosome is a conserved multi-protein complex that is essential for correct RNA processing. Recessive variants in exosome components EXOSC3, EXOSC8, and RBM7 cause various constellations of pontocerebellar hypoplasia (PCH), spinal muscular atrophy (SMA), and central nervous system demyelination. Here, we report on four unrelated affected individuals with recessive variants in EXOSC9 and the effect of the variants on the function of the RNA exosome in  vitro in affected individuals’ fibroblasts and skeletal muscle and in vivo in zebrafish.

Source: The American Journal of Human Genetics - May 3, 2018 Category: Genetics & Stem Cells Authors: David T. Burns, Sandra Donkervoort, Juliane S. M üller, Ellen Knierim, Diana Bharucha-Goebel, Eissa Ali Faqeih, Stephanie K. Bell, Abdullah Y. AlFaifi, Dorota Monies, Francisca Millan, Kyle Retterer, Sarah Dyack, Sara MacKay, Susanne Morales-Gonzalez, Mi Tags: Article Source Type: research