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Neurobiol Aging. 2014 Jan;35(1):267.e9-11. doi: 10.1016/j.neurobiolaging.2013.07.023. Epub 2013 Aug 21.

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

Author information

1
Population Genetics Laboratory, Smurfit Institute of Genetics, Trinity College Dublin, Dublin, Republic of Ireland. Electronic address: mclaugr@tcd.ie.

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.

KEYWORDS:

ALS; Amytrophic lateral sclerosis; UBQLN2; Ubiquilin

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