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Article

Risk of sudden cardiac death in EXOSC5-related disease.

American journal of medical genetics. Part A - 1 Aug 2021

Calame Daniel G, Herman Isabella, Fatih Jawid M, Du Haowei, Akay Gulsen, Jhangiani Shalini N, Coban-Akdemir Zeynep, Milewicz Dianna M, Gibbs Richard A, Posey Jennifer E, Marafi Dana, Hunter Jill V, Fan Yuxin, Lupski James R, Miyake Christina Y

Abstract excerpt

The RNA exosome is a multi-subunit complex involved in the processing, degradation, and regulated turnover of RNA. Several subunits are linked to Mendelian disorders, including pontocerebellar hypoplasia (EXOSC3, MIM #614678; EXOSC8, MIM #616081: and EXOSC9, MIM #618065) and short stature, hearing loss, retinitis pigmentosa, and distinctive facies (EXOSC2, MIM #617763). More recently, EXOSC5 (MIM *606492) was...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 34089229
DOI: 10.1002/ajmg.a.62352
PMCID: PMC8382094

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026.

Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

Risk of sudden cardiac death in EXOSC5-related disease.PMID 34089229Read ↗

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

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

Pontocerebellar hypoplasia associated with p.Arg183Trp homozygous variant in EXOSC1 gene: A case report.Semantic proximity Read ↗

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

Systematic comparison of pathogenic variants of the RNA exosome gene <i>EXOSC3/RRP40</i> in <i>Saccharomyces cerevisiae</i> reveals variant-specific functional consequencesSemantic proximity Read ↗

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

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

A Biallelic Variant of the RNA Exosome Gene<i>EXOSC4</i>Causes Translational Defects Associated with a Neurodevelopmental DisorderSemantic proximity Read ↗

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

Whole-exome sequencing identifies Y1495X of SCN5A to be associated with familial conduction disease and sudden death.Semantic proximity Read ↗

Compound heterozygosity of EXOSC2 ‘missense’ variants causes a bi-allelic decrease in protein expression through novel unexpected pathomechanismsSemantic proximity Read ↗

A novel nonsense variant in EXOC8 underlies a neurodevelopmental disorder.Semantic proximity Read ↗

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