title: 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: Department of Neurosciences, Unit of Molecular Medicine for Neuromuscular and Neurodegenerative disorders, Rome, Italy.
authors: Ginevra
authors: G
authors: Zanni
authors: Chiara
authors: C
authors: Scotton
authors: Chiara
authors: C
authors: Passarelli
authors: Mingyan
authors: M
authors: Fang
authors: Sabina
authors: S
authors: Barresi
authors: Bruno
authors: B
authors: Dallapiccola
authors: Bin
authors: B
authors: Wu
authors: Francesca
authors: F
authors: Gualandi
authors: Alessandra
authors: A
authors: Ferlini
authors: E
authors: E
authors: Bertini
authors: Wang
authors: W
authors: Wei
mesh_terms: D000293:Adolescent; D001284:Atrophy; D001459:Bangladesh; D002531:Cerebellum / Q000473:pathology*; D004252:DNA Mutational Analysis; D059472:Exome; D063326:Exosome Multienzyme Ribonuclease Complex / Q000235:genetics*; D005260:Female; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics; D008297:Male; D009128:Muscle Spasticity / Q000235:genetics; D020125:Mutation, Missense; D016601:RNA-Binding Proteins / Q000235:genetics*; D015419:Spastic Paraplegia, Hereditary / Q000235:genetics; D020754:Spinocerebellar Ataxias / Q000235:genetics; D055815:Young Adult
chemical_list: C571397:EXOSC3 protein, human; D016601:RNA-Binding Proteins; D063326:Exosome Multienzyme Ribonuclease Complex
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