Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Pivot Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Target Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Query: UMLS:C0002736 (
amyotrophic lateral sclerosis
)
19,048
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
Amyotrophic lateral sclerosis
(
ALS
) is a fatal neurodegenerative disorder. Missense mutations of DCTN1 have been identified as a possible genetic risk factor for
ALS
. Here, we tested the
DCTN1 protein
-coding exons in 510 sporadic
ALS
patients in whom SOD1, TARDBP, FUS, and C9orf72 genes were screened before. Polymerase chain reaction and Sanger sequencing were used for mutation discovery. The results revealed two rare heterozygous missense variants, c.1867C>T (p.R623W) and c.2798C>T (p.A933V). These two patients exhibited spinal disease onset without cognitive impairment, and their onset age and diagnosis delay was within the average range of Chinese
ALS
patients. Our results suggested that variants in DCTN1 are not common risk factors for Chinese sporadic
ALS
and that the frequency of variants of unknown significance in the cohort study was 0.39%.
...
PMID:DCTN1 gene analysis in Chinese patients with sporadic amyotrophic lateral sclerosis. 2879 8
