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Exome sequencing in a family with intellectual disability, early onset spasticity, and cerebellar atrophy detects a novel mutation in EXOSC3
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Exome sequencing in a family with intellectual disability, early onset spasticity, and cerebellar atrophy detects a novel mutation in EXOSC3
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Exome sequencing in a family with intellectual disability, early onset spasticity, and cerebellar atrophy detects a novel mutation in EXOSC3
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Journal Article
Exome sequencing in a family with intellectual disability, early onset spasticity, and cerebellar atrophy detects a novel mutation in EXOSC3
2013
Overview
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.
Publisher
Springer Berlin Heidelberg,Springer Nature B.V
Subject
/ Atrophy
/ Biomedical and Life Sciences
/ Exome
/ Exosome Multienzyme Ribonuclease Complex - genetics
/ Female
/ Genomics
/ Humans
/ Intellectual Disability - genetics
/ Male
/ Muscle Spasticity - genetics
/ Mutation
/ RNA-Binding Proteins - genetics
/ Spastic Paraplegia, Hereditary - genetics
