UBQLN2 mutations are not a frequent cause of amyotrophic lateral sclerosis in Ireland |
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Authors: | Russell Lewis McLaughlin Kevin Patrick Kenna Alice Vajda Susan Byrne Daniel G. Bradley Orla Hardiman |
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Affiliation: | 1. Population Genetics Laboratory, Smurfit Institute of Genetics, Trinity College Dublin, Dublin, Republic of Ireland;2. Academic Unit of Neurology, Trinity Biomedical Sciences Institute, Trinity College Dublin, Dublin, Republic of Ireland |
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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. |
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Keywords: | UBQLN2 Ubiquilin Amytrophic lateral sclerosis ALS |
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