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

Russell Lewis McLaughlin; Kevin Patrick dublin; Alice Vajda; Susan Byrne; Daniel G Bradley; Orla Hardiman

doi:10.1016/j.neurobiolaging.2013.07.023

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

Russell Lewis McLaughlin, Kevin Patrick dublin, Alice Vajda, Susan Byrne, Daniel G Bradley, Orla Hardiman

Research output: Contribution to journal › Article › Academic › peer-review

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.

Original language	English
Pages (from-to)	267.e9-11
Journal	Neurobiology of Aging
Volume	35
Issue number	1
DOIs	https://doi.org/10.1016/j.neurobiolaging.2013.07.023
Publication status	Published - Jan 2014
Externally published	Yes

Keywords

Adaptor Proteins, Signal Transducing
Amyotrophic Lateral Sclerosis/genetics
Autophagy-Related Proteins
Cell Cycle Proteins/genetics
Cohort Studies
Gene Frequency
Genetic Variation
Humans
Ireland
Male
Mutation
Polymerase Chain Reaction/methods
Sequence Analysis, DNA/methods
Ubiquitins/genetics

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10.1016/j.neurobiolaging.2013.07.023

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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. ",

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author = "McLaughlin, {Russell Lewis} and dublin, {Kevin Patrick} and Alice Vajda and Susan Byrne and Bradley, {Daniel G} and Orla Hardiman",

year = "2014",

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doi = "10.1016/j.neurobiolaging.2013.07.023",

language = "English",

volume = "35",

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journal = "Neurobiology of Aging",

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T1 - UBQLN2 mutations are not a frequent cause of amyotrophic lateral sclerosis in Ireland

AU - McLaughlin, Russell Lewis

AU - dublin, Kevin Patrick

AU - Vajda, Alice

AU - Byrne, Susan

AU - Bradley, Daniel G

AU - Hardiman, Orla

PY - 2014/1

Y1 - 2014/1

N2 - 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.

AB - 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.

KW - Adaptor Proteins, Signal Transducing

KW - Amyotrophic Lateral Sclerosis/genetics

KW - Autophagy-Related Proteins

KW - Cell Cycle Proteins/genetics

KW - Cohort Studies

KW - Gene Frequency

KW - Genetic Variation

KW - Humans

KW - Ireland

KW - Male

KW - Mutation

KW - Polymerase Chain Reaction/methods

KW - Sequence Analysis, DNA/methods

KW - Ubiquitins/genetics

U2 - 10.1016/j.neurobiolaging.2013.07.023

DO - 10.1016/j.neurobiolaging.2013.07.023

M3 - Article

C2 - 23973441

SN - 0197-4580

VL - 35

SP - 267.e9-11

JO - Neurobiology of Aging

JF - Neurobiology of Aging

IS - 1

ER -

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

Abstract

Keywords

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