title: Genetic analysis of LRRK2 functional domains in Brazilian patients with Parkinson's disease.
abstract: OBJECTIVE
  Mutations in the leucine-rich repeat kinase 2 gene (LRRK2) have been associated with Parkinson's disease (PD), and the majority of the pathogenic variants are located in the ROC and MAPKKK domains.
  
  
  METHODS
  Exons 29-31 and 38-44 (ROC and MAPKKK domains) were sequenced in 204 patients with PD, mostly Brazilian.
  
  
  RESULTS
  We identified four polymorphisms, a novel silent variant p.R1398R and four substitutions: p.T1410M, p.G2019S, p.Y2189C and the novel variant p.C2139S.
  
  
  CONCLUSIONS
  The most prevalent mutation was the p.G2019S (2.4%). We consider that the p.T1410M and the p.Y2189C variants are probably polymorphisms and that the p.C2139S mutation is potentially pathogenic.
authors.affiliation: Serviço de Genética Humana, Departamento de Genética, IBRAG, Universidade do Estado do Rio de Janeiro, Rio de Janeiro, Brazil.
authors.forename: C B
authors.initials: CB
authors.lastname: Abdalla-Carvalho
authors.forename: C B
authors.initials: CB
authors.lastname: Santos-Rebouças
authors.forename: B C
authors.initials: BC
authors.lastname: Guimarães
authors.forename: M
authors.initials: M
authors.lastname: Campos
authors.forename: J S
authors.initials: JS
authors.lastname: Pereira
authors.forename: A L Zuma
authors.initials: AL
authors.lastname: de Rosso
authors.forename: D H
authors.initials: DH
authors.lastname: Nicaretta
authors.forename: M
authors.initials: M
authors.lastname: Marinho e Silva
authors.forename: Mendonça J
authors.initials: MJ
authors.lastname: dos Santos
authors.forename: M M G
authors.initials: MM
authors.lastname: Pimentel
mesh_terms: D000368:Aged; D001938:Brazil; D005091:Exons; D005260:Female; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D000071158:Leucine-Rich Repeat Serine-Threonine Protein Kinase-2; D008297:Male; D008875:Middle Aged; D009154:Mutation; D010300:Parkinson Disease / Q000235:genetics*; D017346:Protein Serine-Threonine Kinases / Q000235:genetics*; D017422:Sequence Analysis, DNA / Q000379:methods
chemical_list: C495280:LRRK2 protein, human; D000071158:Leucine-Rich Repeat Serine-Threonine Protein Kinase-2; D017346:Protein Serine-Threonine Kinases