tRNA splicing endonuclease mutations cause pontocerebellar hypoplasia

Date
2008
Author
Fluiter, Kees
Hammersen, Gerhard
Willemsen, Michel
Poll-The, Bwee Tien
Nuernberg, Gudrun
Becker, Christian
van Ruissen, Fred
Weterman, Marian A. J.
Boltshauser, Eugen
Beek, Erik T. te
Aronica, Eleonora
van der Knaap, Marjo S.
Hoehne, Wolfgang
Toliat, Mohammad Reza
Crow, Yanick J.
Steinlin, Maja
Voit, Thomas
Roelens, Filip
Brussel, Wim
Brockmann, Knut
Kyllerman, Marten
Basel-Vanagaite, Lina
Kraegeloh-Mann, Ingeborg
de Vries, Linda S.
Sztriha, Laszlo
Muntoni, Francesco
Ferrie, Colin D.
Battini, Roberta
Hennekam, Raoul C. M.
Grillo, Eugenio
Beemer, Frits A.
Stoets, Loes M. E.
Wollnik, Bernd
Nuernberg, Peter
Baas, Frank
Budde, Birgit S.
Namavar, Yasmin
Barth, Peter G.
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Abstract
Pontocerebellar hypoplasias (PCH) represent a group of neurodegenerative autosomal recessive disorders with prenatal onset, atrophy or hypoplasia of the cerebellum, hypoplasia of the ventral pons, microcephaly, variable neocortical atrophy and severe mental and motor impairments. In two subtypes, PCH2 and PCH4, we identified mutations in three of the four different subunits of the tRNA-splicing endonuclease complex. Our findings point to RNA processing as a new basic cellular impairment in neurological disorders.
URI
http://hdl.handle.net/20.500.12627/59299
https://doi.org/10.1038/ng.204
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