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| Hereditary ataxia v1.228 | NUS1 |
Dmitrijs Rots gene: NUS1 was added gene: NUS1 was added to Hereditary ataxia. Sources: Literature Mode of inheritance for gene: NUS1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: NUS1 were set to 33731878; 32334381; 32485575; 31656175 Phenotypes for gene: NUS1 were set to intellectual disability; seizures; ataxia; dystonia; tremor Penetrance for gene: NUS1 were set to Complete Review for gene: NUS1 was set to GREEN Added comment: Multiple patients (see below) with de novo or heterozygous variants reported. The phenotype include ID, seizures and/or movement disorder (including tremor, ataxia, dystonia). Functional analysis of patients fibroblasts shows"de novo NUS1 variants reduce NgBR and Niemann–Pick type C2 (NPC2) protein amount, impair dolichol biosynthesis, and cause lysosomal cholesterol accumulation." (Yu et al,m 2021). Movement abnormalities and similar metabolic dysfunction in zebrafish model. 3 patients with ataxia reported in: PMID: 33731878 One patient with dystonia reported in: PMID: 32334381 One family with ataxia reported in: PMID: 32485575 Two cases with ataxia reported in: PMID: 31656175 Additionally, two cases from one family with homozygous missense variant, but NO ataxia is reported:PMID: 25066056 Sources: Literature |
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