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

doi:10.1016/j.ajhg.2018.03.011

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Article

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

American journal of human genetics - 3 May 2018

Burns David T, Donkervoort Sandra, Müller Juliane S, Knierim Ellen, Bharucha-Goebel Diana, Faqeih Eissa Ali, Bell Stephanie K, AlFaifi Abdullah Y, Monies Dorota, Millan Francisca, Retterer Kyle, Dyack Sarah, MacKay Sara, Morales-Gonzalez Susanne, Giunta Michele, Munro Benjamin, Hudson Gavin, Scavina Mena, Baker Laura, Massini Tara C, Lek Monkol, Hu Ying, Ezzo Daniel, AlKuraya Fowzan S, Kang Peter B, Griffin Helen, Foley A Reghan, Schuelke Markus, Horvath Rita, Bönnemann Carsten G

Abstract excerpt

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...

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Identifiers

PMID: 29727687
DOI: 10.1016/j.ajhg.2018.03.011
PMCID: PMC5986733

Genes

EXOSC9
EXOSC3
EXOSC8
RBM7

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

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Variants in EXOSC9 Disrupt the RNA Exosome and Result in Cerebellar Atrophy with Spinal Motor Neuronopathy.PMID 29727687Read ↗

Biallelic variants in the RNA exosome gene EXOSC5 are associated with developmental delays, short stature, cerebellar hypoplasia and motor weaknessSemantic proximity Read ↗

Altered RNA metabolism due to a homozygous RBM7 mutation in a patient with spinal motor neuropathy.Semantic proximity Read ↗

RNA exosome mutations in pontocerebellar hypoplasia alter ribosome biogenesis and p53 levels.Semantic proximity Read ↗

Biallelic protein truncating EXOSC6 variants cause a neurodevelopmental disorder with cerebellar atrophy, ataxia, and global developmental delaySemantic proximity Read ↗

The RNA exosome and RNA exosome-linked disease.Semantic proximity Read ↗

A Drosophila model of Pontocerebellar Hypoplasia reveals a critical role for the RNA exosome in neurons.Semantic proximity Read ↗

Bi-allelic missense variant, p.Ser35Leu in EXOSC1 is associated with pontocerebellar hypoplasia.Semantic proximity Read ↗

Recessive mutation in EXOSC3 associates with mitochondrial dysfunction and pontocerebellar hypoplasia.Semantic proximity Read ↗

EXOSC3 G191 Variants Trigger System-Wide Recalibration of RNA Processing MachinerySemantic proximity Read ↗

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A Drosophila Model of Pontocerebellar Hypoplasia Reveals a Critical Role for the RNA Exosome in NeuronsSemantic proximity Read ↗

A biallelic variant of the RNA exosome gene, EXOSC4, associated with neurodevelopmental defects impairs RNA exosome function and translation.Semantic proximity Read ↗

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