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.

译文

:来自孟加拉国的两代亲属的全外显子组测序,具有发作前的痉挛,轻度智力残疾,远端肌萎缩和小脑萎缩(作为常染色体隐性遗传),它们确定了EXOSC3基因中的以下两个错义突变:一种新的p.V80F突变和一种已知的p.D132A改变,先前与1型小脑小脑发育不全的轻度变异有关。这项研究证实了RNA加工蛋白参与了运动神经元和小脑变性疾病与脊髓小脑性共济失调36和罕见的具有小脑特征的遗传性痉挛性截瘫的疾病。

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