UBQLN2 mutations are not a frequent cause of amyotrophic lateral sclerosis in Ireland

作者：McLaughlin Russell Lewis^*; Kenna Kevin Patrick; Vajda Alice; Byrne Susan; Bradley Daniel G; Hardiman Orla

来源：Neurobiology of Aging, 2014, 35(1): 267.e9-267.e11.

DOI：10.1016/j.neurobiolaging.2013.07.023

• UBQLN2
• Ubiquilin
• Amytrophic lateral sclerosis
• ALS

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.

• 出版日期2014-1