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EXOSC3 mutations were linked to complicated hereditary spastic paraplegia.
study identified new nonsense and missense mutations in the EXOSC3 gene and showed mutations in this gene are exclusively found in pontocerebellar hypoplasia type 1 patients; there are evident genotype-phenotype correlations in EXOSC3-mediated PCH reflected in clinical outcome, age of death and pons hypoplasia
The same mutation c.92G-->C, p.G31A in EXOSC3 was found in three unrelated Czech Roma patients with Pontocerebellar hypoplasia type 1
The present study indicates that EXOSC3 mutations can underlie clinical phenotype not classifiable as pontocerebellar hypoplasia type 1.
We identified a homozygous mutation [c.395A > C/p.D132A] in EXOSC3 in four patients with muscle hypotonia, developmental delay, spinal anterior horn involvement, and prolonged survival, consistent with the "mild PCH1 (show VRK1 Proteins) phenotype".
Protein-protein interactions between human exosome components support the assembly of RNase PH-type subunits into a six-membered PNPase (show PNPT1 Proteins)-like ring.
EXOSC3 mutations account for 30%-40% of patients with PCH1 (show VRK1 Proteins) with variability in survival and clinical severity that is correlated with the genotype.
This gene encodes a non-catalytic component of the human exosome, a complex with 3'-5' exoribonuclease activity that plays a role in numerous RNA processing and degradation activities. Related pseudogenes of this gene are found on chromosome 19 and 21. Alternatively spliced transcript variants encoding different isoforms have been described.
exosome complex exonuclease RRP40
, exosome complex component RRP40
, exosome component 3
, ribosomal RNA-processing protein 40