■核十一烯焦磷酸合酶1(NUS1)基因变体与一系列表型相关,包括癫痫,智力残疾,小脑共济失调,帕金森病,肌张力障碍,和先天性糖基化疾病。此外,描述基因型和临床特征的病例很少见。
■这里,我们报道了一例23岁的中国女性患者出现震颤,智力残疾,和癫痫。一氧化碳暴露史,脑外伤,或脑炎在这种情况下不存在。Trio全外显子组测序分析揭示了外显子4中c.750del的从头致病变体,导致p.Leu251*氨基酸取代。遗传分析未能在接受筛查的其余家庭成员中鉴定出相同的突变。病人被诊断出患有一种罕见的先天性疾病,“先天性糖基化障碍,1aa型,常染色体显性,55型,癫痫发作(MRD-55)。\"
■我们为NUS1变异体在震颤发展中的作用提供了进一步的证据,癫痫,和智力障碍。这些发现扩大了我们对NUS1变异的临床表型的理解。
UNASSIGNED: Nuclear undecaprenyl pyrophosphate synthase 1 (NUS1) gene variants are associated with a range of phenotypes, including epilepsy, intellectual disability, cerebellar ataxia, Parkinson\'s disease, dystonia, and congenital disorders of glycosylation. Additionally, cases describing genotypes and clinical features are rare.
UNASSIGNED: Herein, we report the
case of a 23-year-old Chinese female patient who presented with tremors, intellectual disability, and epilepsy. A history of carbon monoxide exposure, brain trauma, or encephalitis was not present in this
case. Trio whole-exome sequencing analysis revealed a de novo pathogenic variant of c.750del in exon 4, leading to p.Leu251* amino acid substitution. Genetic analysis failed to identify the identical mutations in the remaining family members who underwent screening. The patient was diagnosed with a rare congenital disease, \"congenital glycosylation disorder, type 1aa, autosomal dominant, type 55, with seizures (MRD-55).\"
UNASSIGNED: We provide further evidence for the role of variants in NUS1 in the development of tremors, epilepsy, and intellectual disabilities. These findings expand our understanding of the clinical phenotypes of NUS1 variants.