MATR3 mutation analysis in a Chinese cohort with sporadic amyotrophic lateral sclerosis

Several recent studies have reported that the MATR3 gene is associated with the risk of amyotrophic lateral sclerosis (ALS). We sequenced the MATR3 gene in 509 unrelated Chinese sporadic ALS patients and 560 control subjects. We identified a novel missense mutation p.Ser610Phe in one patient. We als...

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Bibliographic Details
Published in	Neurobiology of aging Vol. 38; pp. 218.e3 - 218.e4
Main Authors	Xu, Lianping, Li, Jiao, Tang, Lu, Zhang, Nan, Fan, Dongsheng
Format	Journal Article
Language	English
Published	United States Elsevier Inc 01.02.2016
Subjects	Amyotrophic lateral sclerosis Amyotrophic Lateral Sclerosis - genetics Asian Continental Ancestry Group - genetics Chinese population Cohort Studies Genetic Association Studies Humans Internal Medicine MATR3 gene Mutation - genetics Mutation, Missense Neurology Novel mutation Nuclear Matrix-Associated Proteins - genetics Risk RNA-Binding Proteins - genetics Chinese population Amyotrophic lateral sclerosis MATR3 gene Novel mutation
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ISSN	0197-4580 1558-1497 1558-1497
DOI	10.1016/j.neurobiolaging.2015.11.023

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Summary:	Several recent studies have reported that the MATR3 gene is associated with the risk of amyotrophic lateral sclerosis (ALS). We sequenced the MATR3 gene in 509 unrelated Chinese sporadic ALS patients and 560 control subjects. We identified a novel missense mutation p.Ser610Phe in one patient. We also detected 3 missense variants (p.Ala313Gly, p.Arg147Lys, and p.Gln347Lys) in 3 of the 560 healthy controls. Our results suggest that MATR3 may not be a common genetic factor in Chinese ALS patients.
Bibliography:	ObjectType-Article-1 SourceType-Scholarly Journals-1 ObjectType-Feature-2 content type line 23
ISSN:	0197-4580 1558-1497 1558-1497
DOI:	10.1016/j.neurobiolaging.2015.11.023