一个散发型肌萎缩侧索硬化症快速进展病例中出现的新型无义突变（p.Asn140Ter）。
A novel nonsense mutation (p.Asn140Ter) in a sporadic amyotrophic lateral sclerosis case with rapid progression.
机构信息
Department of Neurology, The Third Affiliated Hospital of Sun Yat-sen University, Guangzhou, China.
Department of Neurology, Zhuhai People's Hospital, Zhuhai, China.
出版信息
Amyotroph Lateral Scler Frontotemporal Degener. 2021 Nov;22(7-8):583-584. doi: 10.1080/21678421.2021.1871629. Epub 2021 Jan 15.
Sporadic amyotrophic lateral sclerosis (ALS; SALS) accounts for more than 90% of all cases of the fatal neurodegenerative disease ALS. Cu/Zn superoxide dismutase () gene mutations are the confirmed causes of adult-onset ALS. Here, we report a novel nonsense mutation, c.417_418insT (p.Asn140Ter), in exon 5 of the gene in a Chinese adult female patient with SALS who showed rapid disease progression. This novel mutation will help deepen our understanding of the genetic pathogenesis of ALS.
散发性肌萎缩侧索硬化症（ALS；SALS）占所有致命神经退行性疾病 ALS 病例的 90%以上。铜/锌超氧化物歧化酶（）基因突变为成人发病型 ALS 的明确病因。在此，我们报告了一位中国成年女性 SALS 患者中基因外显子 5 上的一个新的无义突变 c.417_418insT（p.Asn140Ter），该患者疾病进展迅速。这个新的突变将有助于加深我们对 ALS 遗传发病机制的理解。
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