title: UBQLN2 mutations are not a frequent cause of amyotrophic lateral sclerosis in Ireland.
abstract: 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.
authors: Population Genetics Laboratory, Smurfit Institute of Genetics, Trinity College Dublin, Dublin, Republic of Ireland. Electronic address: mclaugr@tcd.ie.
authors: Russell Lewis
authors: RL
authors: McLaughlin
authors: Kevin Patrick
authors: KP
authors: Kenna
authors: Alice
authors: A
authors: Vajda
authors: Susan
authors: S
authors: Byrne
authors: Daniel G
authors: DG
authors: Bradley
authors: Orla
authors: O
authors: Hardiman
mesh_terms: D048868:Adaptor Proteins, Signal Transducing; D000690:Amyotrophic Lateral Sclerosis / Q000235:genetics*; D000071183:Autophagy-Related Proteins; D018797:Cell Cycle Proteins / Q000235:genetics*; D015331:Cohort Studies; D005787:Gene Frequency; D014644:Genetic Variation; D006801:Humans; D007494:Ireland; D008297:Male; D009154:Mutation; D016133:Polymerase Chain Reaction / Q000379:methods; D017422:Sequence Analysis, DNA / Q000379:methods; D014452:Ubiquitins / Q000235:genetics*
chemical_list: D048868:Adaptor Proteins, Signal Transducing; D000071183:Autophagy-Related Proteins; D018797:Cell Cycle Proteins; C405662:UBQLN2 protein, human; D014452:Ubiquitins
keywords: ALS; Amytrophic lateral sclerosis; UBQLN2; Ubiquilin