tRNA splicing endonuclease mutations cause pontocerebellar hypoplasia

Birgit S. Budde, Yasmin Namavar, Peter G. Barth, Bwee Tien Poll-The, Gudrun Nürnberg, Christian Becker, Fred Van Ruissen, Marian A J Weterman, Kees Fluiter, Erik T. Te Beek, Eleonora Aronica, Marjo S. Van Der Knaap, Wolfgang Höhne, Mohammad Reza Toliat, Yanick J. Crow, Maja Steinlin, Thomas Voit, Filip Roelens, Wim Brussel, Knut BrockmannMarten Kyllerman, Eugen Boltshauser, Gerhard Hammersen, Michèl Willemsen, Lina Basel-Vanagaite, Ingeborg Krägeloh-Mann, Linda S. De Vries, Laszlo Sztriha, Francesco Muntoni, Colin D. Ferrie, Roberta Battini, Raoul C M Hennekam, Eugenio Grillo, Frits A. Beemer, Loes M E Stoets, Bernd Wollnik, Peter Nürnberg, Frank Baas

    Research output: Contribution to journalArticlepeer-review


    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. © 2008 Nature Publishing Group.
    Original languageEnglish
    Pages (from-to)1113-1118
    Number of pages5
    JournalNature Genetics
    Issue number9
    Publication statusPublished - Sept 2008


    • metabolism: Brain
    • abnormalities: Cerebellum
    • Chromosome Mapping
    • Chromosomes, Human, Pair 17
    • genetics: Endoribonucleases
    • Humans
    • Models, Molecular
    • Mutation
    • Polymorphism, Single Nucleotide
    • abnormalities: Pons
    • Syndrome


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