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01-11-2013 | Short Communication

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

Authors: Ginevra Zanni, Chiara Scotton, Chiara Passarelli, Mingyan Fang, Sabina Barresi, Bruno Dallapiccola, Bin Wu, Francesca Gualandi, Alessandra Ferlini, E. Bertini, Wang Wei

Published in: Neurogenetics | Issue 3-4/2013

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.

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Title: Exome sequencing in a family with intellectual disability, early onset spasticity, and cerebellar atrophy detects a novel mutation in EXOSC3
Authors: Ginevra Zanni
Chiara Scotton
Chiara Passarelli
Mingyan Fang
Sabina Barresi
Bruno Dallapiccola
Bin Wu
Francesca Gualandi
Alessandra Ferlini
E. Bertini
Wang Wei
Publication date: 01-11-2013
Publisher: Springer Berlin Heidelberg
Published in: Neurogenetics / Issue 3-4/2013
Print ISSN: 1364-6745
Electronic ISSN: 1364-6753
DOI: https://doi.org/10.1007/s10048-013-0371-z

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Springer Medicine

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

Abstract

Keynote webinar | Spotlight on medication adherence

Springer Medicine

Abstract

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Acknowledgement to Referees 2012/2013