tRNA splicing endonuclease mutations cause pontocerebellar hypoplasia

ISSN
1061-4036
Date Issued
2008
Author(s)
Budde, Birgit
Namavar, Yasmin
Barth, Peter G.
Poll-The, Bwee Tien
Nürnberg, Gudrun
Becker, Christian
van Ruissen, Fred
Weterman, Marian A. J.
Fluiter, Kees
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
Kyllerman, Marten
Boltshauser, Eugen
Hammersen, Gerhard
Willemsen, Michel
Basel-Vanagaite, Lina
Kraegeloh-Mann, Ingeborg
Vries, Linda S. de
Sztriha, Laszlo
Muntoni, Francesco
Ferrie, Colin D.
Battini, Roberta
Hennekam, Raoul C. M.
Grillo, Eugenio
Beemer, Frits A.
Stoets, Loes M. E.
Nürnberg, Peter
Baas, Frank
DOI
10.1038/ng.204
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.