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

  • Ginevra Zanni
  • Chiara Scotton
  • Chiara Passarelli
  • Mingyan Fang
  • Sabina Barresi
  • Bruno Dallapiccola
  • Bin Wu
  • Francesca Gualandi
  • Alessandra Ferlini
  • E. Bertini
  • Wang Wei
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 S1Clinical features of the two affected siblings compared to D132A-related PCH1 patients (DOC 40 kb)

Copyright information

© Springer-Verlag Berlin Heidelberg 2013

Authors and Affiliations

  • Ginevra Zanni
    • 1
  • Chiara Scotton
    • 2
  • Chiara Passarelli
    • 2
    • 3
  • Mingyan Fang
    • 4
  • Sabina Barresi
    • 1
  • Bruno Dallapiccola
    • 3
  • Bin Wu
    • 4
  • Francesca Gualandi
    • 2
  • Alessandra Ferlini
    • 2
  • E. Bertini
    • 1
  • Wang Wei
    • 4
  1. 1.Department of NeurosciencesUnit of Molecular Medicine for Neuromuscular and Neurodegenerative disordersRomeItaly
  2. 2.Department of Medical SciencesUniversity of FerraraFerraraItaly
  3. 3.Bambino Gesù Children’s Hospital, IRCCSRomeItaly
  4. 4.BGI-ShenzhenShenzhenChina