Mutations in the profilin 1 gene are not common in amyotrophic lateral sclerosis of Chinese origin.
Amyotrophic lateral sclerosis (ALS) is a progressive neurodegenerative disease primarily involving the corticospinal tract, brainstem, and anterior cells of the spinal cord. Mutations in the profilin 1 gene (PFN1) were recently described in ALS families. To investigate the spectrum and frequency of PFN1 mutations further, we sequenced all 3 exons of the PFN1 gene in 20 familial ALS index cases, 324 sporadic ALS patients, and 355 healthy control subjects. No nonsynonymous coding variants were identified. Our findings suggest that mutations in the PFN1 gene are not a common cause of ALS in the Chinese population.
Department of Neurology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China.
Zhang-Yu
ZY
Zou
Qing
Q
Sun
Ming-Sheng
MS
Liu
Xiao-Guang
XG
Li
Li-Ying
LY
Cui
D000328:Adult; D000690:Amyotrophic Lateral Sclerosis / Q000175:diagnosis* / Q000208:ethnology / Q000235:genetics*; D044466:Asian People / Q000208:ethnology / Q000235:genetics*; D005091:Exons / Q000235:genetics*; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation / Q000235:genetics*; D051304:Profilins / Q000235:genetics*
C495738:PFN1 protein, human; D051304:Profilins