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

Research output: Contribution to journalArticle

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.

Original languageEnglish
Pages (from-to)247-250
Number of pages4
JournalNeurogenetics
Volume14
Issue number3-4
DOIs
Publication statusPublished - 2013

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Keywords

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

ASJC Scopus subject areas

  • Genetics(clinical)
  • Cellular and Molecular Neuroscience
  • Genetics

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