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

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.

• Authors: Ginevra Zanni, Chiara Scotton, Chiara Passarelli, Mingyan Fang, Sabina Barresi, Bruno Dallapiccola, Bin Wu, Francesca Gualandi, Alessandra Ferlini, E Bertini, Wang Wei
• Journal: Neurogenetics (Neurogenetics) Vol. 14 Issue 3-4 Pg. 247-50 (Nov 2013) ISSN: 1364-6753 [Electronic] United States
• PMID: 23975261 (Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't)

Chemical References

• EXOSC3 protein, human
• RNA-Binding Proteins
• Exosome Multienzyme Ribonuclease Complex

Topics

• Adolescent
• Atrophy
• Bangladesh
• Cerebellum (pathology)
• DNA Mutational Analysis
• Exome
• Exosome Multienzyme Ribonuclease Complex (genetics)
• Female
• Humans
• Intellectual Disability (genetics)
• Male
• Muscle Spasticity (genetics)
• Mutation, Missense
• RNA-Binding Proteins (genetics)
• Spastic Paraplegia, Hereditary (genetics)
• Spinocerebellar Ataxias (genetics)
• Young Adult