Centre of Excellence in Neuromics of Université de Montréal, CHUM Research Center, Montreal, Quebec, Canada.
Neurobiol Aging. 2011 Mar;32(3):555.e13-4. doi: 10.1016/j.neurobiolaging.2010.10.001. Epub 2010 Nov 11.
Mutations in the OPTN gene are well known to be associated with the development of glaucoma. Recently, unique variations in the same gene have been reported in familial and sporadic Japanese cases of amyotrophic lateral sclerosis (ALS). We set out to evaluate the frequency of OPTN mutations in a sample of our familial and sporadic ALS cohorts. All coding exons of the OPTN gene were amplified and sequenced in 95 unrelated familial ALS (FALS) and 95 sporadic ALS (SALS) cases of European descent. Two variants were newly identified in 2 individual FALS cases. Unique variations in the OPTN gene are rare in FALS cases and were not identified in any SALS patients, all of European descent.
OPTN 基因突变与青光眼的发生密切相关。最近，在家族性和散发性日本肌萎缩侧索硬化症（ALS）病例中，同一基因的独特变异也有报道。我们旨在评估 OPTN 基因突变在我们的家族性和散发性 ALS 队列样本中的频率。在 95 例无关的家族性 ALS（FALS）和 95 例散发性 ALS（SALS）欧洲血统病例中，扩增并测序了 OPTN 基因的所有编码外显子。在 2 例 FALS 病例中发现了 2 种新的变异。FALS 病例中 OPTN 基因的独特变异很少见，在任何欧洲血统的 SALS 患者中都没有发现。
