Hipoplasia pontocerebelosa tipo I familiar con mutación en EXOSC3

Published on May 1, 2017in Anales De Pediatria1.313
· DOI :10.1016/J.ANPEDI.2016.09.011
Anna Paola Di Giovambattista2
Estimated H-index: 2
Itxaropena Jácome Querejeta2
Estimated H-index: 2
+ 2 AuthorsFeliciano Jesús Ramos Fuentes3
Estimated H-index: 3
#1Veerle Rc EggensH-Index: 5
#2Peter G. BarthH-Index: 72
Last. Frank BaasH-Index: 105
view all 3 authors...
4 Citations
#1Veerle Rc EggensH-Index: 5
#2Peter G. Barth (Boston Children's Hospital)H-Index: 72
Last. Frank BaasH-Index: 105
view all 30 authors...
Background: Pontocerebellar hypoplasia (PCH) represents a group of neurodegenerative disorders with prenatal onset. Eight subtypes have been described thus far (PCH1-8) based on clinical and genetic features. Common characteristics include hypoplasia and atrophy of the cerebellum, variable pontine atrophy, and severe mental and motor impairments. PCH1 is distinctly characterized by the combination with degeneration of spinal motor neurons. Recently, mutations in the exosome component 3 gene (EXO...
58 CitationsSource
#1Jaroslava Paulasova Schwabova (Charles University in Prague)H-Index: 4
#2Dana Safka Brozkova (Charles University in Prague)H-Index: 3
Last. Pavel Seeman (Charles University in Prague)H-Index: 25
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AbstractPontocerebellar hypoplasia type 1 (PCH1) is characterized by cerebellar and anterior horn motor neuron degeneration and loss, signs of spinal muscular atrophy plus. Patients manifest severe perinatal weakness, hypotonia, and respiratory insufficiency, causing death frequently before the age of 1 year. Recently, causative mutations in EXOSC3 were reported in a majority of PCH1 patients, but the detailed clinical phenotype caused by EXOSC3 mutations, genotype-phenotype correlations, and pr...
36 CitationsSource
#1Sabine Rudnik-Schöneborn (RWTH Aachen University)H-Index: 41
#2J. Senderek (LMU: Ludwig Maximilian University of Munich)H-Index: 1
Last. Klaus Zerres (RWTH Aachen University)H-Index: 84
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Objectives: Pontocerebellar hypoplasia with spinal muscular atrophy, also known as PCH1, is a group of autosomal recessive disorders characterized by generalized muscle weakness and global developmental delay commonly resulting in early death. Gene defects had been discovered only in single patients until the recent identification of EXOSC3 mutations in several families with relatively mild course of PCH1. We aim to genetically stratify subjects in a large and well-defined cohort to define the c...
68 CitationsSource
#1Jijun Wan (UCLA: University of California, Los Angeles)H-Index: 15
#2Michael Yourshaw (UCLA: University of California, Los Angeles)H-Index: 12
Last. Joanna C. Jen (UCLA: University of California, Los Angeles)H-Index: 33
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Jaonna Jen and colleagues identify mutations in EXOSC3, encoding a core RNA exosome component, causing pontocerebellar hypoplasia type 1 (PCH1), a recessive disorder with heterogeneous defects in brain development. Nine out of 13 individuals diagnosed with PCH1 had missense, frameshift or exon-skipping mutations in EXOSC3, suggesting a critical role of RNA metabolism in normal brain development.
170 CitationsSource
#1Yasmin Namavar (UvA: University of Amsterdam)H-Index: 6
#2Peter G. Barth (UvA: University of Amsterdam)H-Index: 72
Last. Frank Baas (UvA: University of Amsterdam)H-Index: 105
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Pontocerebellar Hypoplasia (PCH) is group of very rare, inherited progressive neurodegenerative disorders with prenatal onset. Up to now seven different subtypes have been reported (PCH1-7). The incidence of each subtype is unknown. All subtypes share common characteristics, including hypoplasia/atrophy of cerebellum and pons, progressive microcephaly, and variable cerebral involvement. Patients have severe cognitive and motor handicaps and seizures are often reported. Treatment is only symptoma...
115 CitationsSource
Cited By3
#1Derrick J. Morton (Emory University)H-Index: 8
#2Binta Jalloh (Emory University)H-Index: 4
Last. Anita H. Corbett (Emory University)H-Index: 61
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The RNA exosome is an evolutionarily-conserved ribonuclease complex critically important for precise processing and/or complete degradation of a variety of cellular RNAs. The recent discovery that mutations in genes encoding structural RNA exosome subunits cause tissue-specific diseases makes defining the role of this complex within specific tissues critically important. Mutations in the RNA exosome component 3 (EXOSC3) gene cause Pontocerebellar Hypoplasia Type 1b (PCH1b), an autosomal recessiv...
2 CitationsSource
#1Milo B. Fasken (Emory University)H-Index: 14
#2Derrick J. Morton (Emory University)H-Index: 8
Last. Anita H. Corbett (Emory University)H-Index: 61
view all 6 authors...
The evolutionarily conserved RNA exosome is a multisubunit ribonuclease complex that processes and/or degrades numerous RNAs. Recently, mutations in genes encoding both structural and catalytic subunits of the RNA exosome have been linked to human disease. Mutations in the structural exosome gene EXOSC2 cause a distinct syndrome that includes retinitis pigmentosa, hearing loss, and mild intellectual disability. In contrast, mutations in the structural exosome genes EXOSC3 and EXOSC8 cause pontoc...
10 CitationsSource