Abstract：
In patients of Asian ancestry, a heterozygous CGG repeat expansion of >100 units in LRP12 is the cause of oculopharyngodistal myopathy type 1 (OPDM1). Repeat lengths of between 61 and 100 units have been associated with rare amyotrophic lateral sclerosis (ALS) cases of Asian ancestry, although with unusually long disease duration and without significant upper motor neuron involvement. This study sought to determine whether LRP12 CGG repeat expansions were also present in ALS patients of European ancestry. Whole-genome sequencing data from 608 sporadic ALS patients, 35 familial ALS probands, and 4703 neurologically normal controls were screened for LRP12 CGG expansions using ExpansionHunter v4. All individuals had LRP12 CGG repeat lengths within the normal range of 3-25 units. To date, LRP12 CGG repeat expansions have not been reported in ALS patients of European ancestry and may be limited to rare ALS patients of Asian ancestry and atypical clinical presentations.
摘要：
在亚洲血统的患者中，LRP12中>100个单位的杂合CGG重复扩增是1型眼咽远端肌病(OPDM1)的原因。61至100个单位的重复长度与亚洲血统的罕见肌萎缩性侧索硬化症（ALS）病例有关，尽管疾病持续时间异常长，并且没有明显的上运动神经元受累。这项研究旨在确定欧洲血统的ALS患者是否也存在LRP12CGG重复扩增。来自608例散发性ALS患者的全基因组测序数据，35名家族性ALS先证者，使用ExpansionHunterv4筛选4703个神经正常对照的LRP12CGG扩增。所有个体的LRP12CGG重复长度在3-25个单位的正常范围内。迄今为止,在欧洲血统的ALS患者中尚未报道LRP12CGG重复扩增，可能仅限于亚洲血统和非典型临床表现的罕见ALS患者。
