Abstract
Mutations in the UBQLN2 gene, which encodes a member of the ubiquitin-like protein family (ubiquilin-2), have been identified in patients with dominant X-linked amyotrophic lateral sclerosis (ALS) and ALS with frontotemporal dementia (FTD). We analyzed mutations in the UBQLN2 gene in a Chinese cohort of 515 patients with sporadic ALS (sALS). A novel missense mutation (p.M392V) was detected in one sALS patient. The p.M392V mutation substitutes a highly conserved residue, has not been reported in the population databases, and previously, at the same residue, a missense mutation p.M392I was detected in two Turkey ALS patients and was considered to be pathogenic, so the M392V is a variant of uncertain significance (VOUS) for ALS. We also found a deletion mutation (p.P500_G502del), which seems to be benign. In conclusion, our data suggest that mutations in the UBQLN2 gene are rare in Chinese sALS patients.
Highlights
It has been known that UBQLN2 gene is associated with amyotrophic lateral sclerosis (ALS) and ALS with frontotemporal dementia (FTD) [1]
We found a missense mutation (c.1174A>G; p.M392V) of UBQLN2 in one sporadic ALS (sALS) patient (2014–042) and a deletion mutation (c.1500-1508delCATAGGCCC; p.P500_G502del) in a patient with sALS (2013–368) (Fig 1)
We detected a silent variant in one patient and one control: c.51T>A (p.P17P) (2/718; rs371163085), which seems to be a benign polymorphism
Summary
It has been known that UBQLN2 gene is associated with amyotrophic lateral sclerosis (ALS) and ALS with frontotemporal dementia (FTD) [1]. Studies of ALS cohorts from different ethnic groups have been conducted to identify the pathogenicity of UBQLN2 mutations in ALS patients, and it is recognized that UBQLN2 mutations are not a common cause of ALS [2,3,4,5,6,7]. Korea and Taiwan have conducted genetic surveys in ALS patients, and their results suggested that mutations in UBQLN2 gene are rare [8, 9]. As for mainland China, a huge ethnic group of East Asian, few data are available. We assessed the site and frequency of UBQLN2 gene mutations in a cohort of mainland Chinese patients with sALS
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