neurogenetics

, Volume 14, Issue 3, pp 247–250

Exome sequencing in a family with intellectual disability, early onset spasticity, and cerebellar atrophy detects a novel mutation in EXOSC3

Authors

  • Ginevra Zanni
    • Department of NeurosciencesUnit of Molecular Medicine for Neuromuscular and Neurodegenerative disorders
  • Chiara Scotton
    • Department of Medical SciencesUniversity of Ferrara
  • Chiara Passarelli
    • Department of Medical SciencesUniversity of Ferrara
    • Bambino Gesù Children’s Hospital, IRCCS
  • Mingyan Fang
    • BGI-Shenzhen
  • Sabina Barresi
    • Department of NeurosciencesUnit of Molecular Medicine for Neuromuscular and Neurodegenerative disorders
  • Bruno Dallapiccola
    • Bambino Gesù Children’s Hospital, IRCCS
  • Bin Wu
    • BGI-Shenzhen
  • Francesca Gualandi
    • Department of Medical SciencesUniversity of Ferrara
  • Alessandra Ferlini
    • Department of Medical SciencesUniversity of Ferrara
    • Department of NeurosciencesUnit of Molecular Medicine for Neuromuscular and Neurodegenerative disorders
  • Wang Wei
    • BGI-Shenzhen
Short Communication

DOI: 10.1007/s10048-013-0371-z

Cite this article as:
Zanni, G., Scotton, C., Passarelli, C. et al. Neurogenetics (2013) 14: 247. doi:10.1007/s10048-013-0371-z

Abstract

Whole exome sequencing in two-generational kindred from Bangladesh with early onset spasticity, mild intellectual disability, distal amyotrophy, and cerebellar atrophy transmitted as an autosomal recessive trait identified the following two missense mutations in the EXOSC3 gene: a novel p.V80F mutation and a known p.D132A change previously associated with mild variants of pontocerebellar hypoplasia type 1. This study confirms the involvement of RNA processing proteins in disorders with motor neuron and cerebellar degeneration overlapping with spinocerebellar ataxia 36 and rare forms of hereditary spastic paraplegia with cerebellar features.

Keywords

Exosome component 3 (EXOSC3) Hereditary spastic paraplegia (HSP) Pontocerebellar hypoplasia type 1 (PCH1) Spinocerebellar ataxia type 36 (SCA36) Whole exome sequencing (WES)

Supplementary material

10048_2013_371_MOESM1_ESM.doc (40 kb)
Table S1 Clinical features of the two affected siblings compared to D132A-related PCH1 patients (DOC 40 kb)

Copyright information

© Springer-Verlag Berlin Heidelberg 2013