title: Identification of a novel missense mutation in angiogenin in a Chinese amyotrophic lateral sclerosis cohort.
abstract: Abstract   Angiogenin (ANG) gene mutations have been identified in both familial and sporadic amyotrophic lateral sclerosis (ALS) patients from multiple European and North American populations. However, no ANG mutation has yet been reported in Asian ALS populations. Here, we screened for ANG mutations in a Chinese ALS cohort. The entire coding region of the ANG gene was sequenced in 10 familial ALS pedigrees, 202 sporadic ALS patients, and 151 healthy controls. All patients were negative for SOD1, FUS, and TARDBP mutations. We identified a novel missense mutation, c.379G > A (p.V103I), in one sporadic ALS patient, but not in the controls. No mutations were found in the familial ALS patients. A novel missense variant, c.323A > G (p.H84R), was detected in one healthy individual. We identified the presence of the known single nucleotide polymorphism, rs11701 (T/G), in both ALS cases and controls. However, no significant association of the G allele with ALS susceptibility was demonstrated. In conclusion, ANG mutations accounted for 0.5% of our SOD1-, FUS-, TARDBP- mutation-negative ALS cohort. Our findings highlight that the genetic background of ALS differs between different populations, and suggest that ANG mutation may be involved in the aetiology of ALS in the Han Chinese population.
authors.affiliation: Department of Neurology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China.
authors.forename: Zhang-Yu
authors.initials: ZY
authors.lastname: Zou
authors.forename: Xin-Ning
authors.initials: XN
authors.lastname: Wang
authors.forename: Ming-Sheng
authors.initials: MS
authors.lastname: Liu
authors.forename: Qin
authors.initials: Q
authors.lastname: Sun
authors.forename: Xiao-Guang
authors.initials: XG
authors.lastname: Li
authors.forename: Li-Ying
authors.initials: LY
authors.lastname: Cui
authors.forename: Jiming
authors.initials: J
authors.lastname: Kong
mesh_terms: D000328:Adult; D000483:Alleles; D000690:Amyotrophic Lateral Sclerosis / Q000235:genetics*; D044466:Asian People / Q000235:genetics*; D015331:Cohort Studies; D004252:DNA Mutational Analysis; D005260:Female; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D005838:Genotype; D006801:Humans; D008297:Male; D008875:Middle Aged; D020125:Mutation, Missense; D020641:Polymorphism, Single Nucleotide; D012259:Ribonuclease, Pancreatic / Q000737:chemistry*
chemical_list: C046366:angiogenin; D012259:Ribonuclease, Pancreatic