Population Genetics Laboratory, Smurfit Institute of Genetics, Trinity College Dublin, Dublin, Republic of Ireland.
Neurobiol Aging. 2014 Jan;35(1):267.e9-11. doi: 10.1016/j.neurobiolaging.2013.07.023. Epub 2013 Aug 21.
Mutations in UBQLN2 have been shown to be a cause of dominant X-linked amyotrophic lateral sclerosis (ALS). Occurrences of mutations in this gene vary across ALS populations. We screened UBQLN2 for mutations in a final cohort of 150 Irish ALS patients. Individuals who were from families with male-to-male transmission or who carried pathogenic hexanucleotide repeat expansions in C9orf72 were excluded. Apart from common synonymous variation, no sequence variants in UBQLN2 were observed. Mutations in UBQLN2 are therefore not a frequent cause of ALS in the Irish population.
UBQLN2 中的突变已被证实是显性 X 连锁肌萎缩侧索硬化症（ALS）的病因之一。该基因的突变在不同 ALS 人群中发生的频率有所不同。我们对 150 名爱尔兰 ALS 患者的最终队列进行了 UBQLN2 基因突变筛查。排除了来自男性到男性遗传的家族或携带 C9orf72 中致病性六核苷酸重复扩展的个体。除了常见的同义变异外，未观察到 UBQLN2 中的序列变异。因此，UBQLN2 中的突变在爱尔兰人群中不是 ALS 的常见病因。
