ARHGEF28 gene exon 6/intron 6 junction mutations in Chinese amyotrophic lateral sclerosis cohort.
It was reported that the intron 6, + 1 del G (GT>TT) mutation of the ARHGEF28 gene generates a shortened protein that might be related to amyotrophic lateral sclerosis (ALS). We sequenced this mutation in 25 familial ALS (FALS), 357 sporadic ALS (SALS) patients, and 442 healthy control subjects. We found just two SALS patients exhibited the mutation so that the incidence of this mutation was 0.52% (2/382) of all the ALS patients. The clinical features of the mutation-positive patients were quite different from the case reported in a previous study. These characteristics differed in terms of gender, site of onset, cognitive function, and family history.
Department of Neurology, Peking University Third Hospital, Haidian District , Beijing , China.
Yan
Y
Ma
Lu
L
Tang
Lu
L
Chen
Bin
B
Zhang
Pan
P
Deng
Jingran
J
Wang
Yi
Y
Yang
Rong
R
Liu
Yan
Y
Yang
Shan
S
Ye
Xiaolu
X
Liu
Huagang
H
Zhang
Dongsheng
D
Fan
D000328:Adult; D000368:Aged; D000690:Amyotrophic Lateral Sclerosis / Q000235:genetics*; D044466:Asian People / Q000235:genetics; D004252:DNA Mutational Analysis; D005091:Exons / Q000235:genetics; D005260:Female; D020662:Guanine Nucleotide Exchange Factors / Q000235:genetics*; D006801:Humans; D007438:Introns / Q000235:genetics; D008297:Male; D008875:Middle Aged; D009154:Mutation / Q000235:genetics*
D020662:Guanine Nucleotide Exchange Factors
ALS cohort; ARHGEF28 gene; RGNEF protein