title: The NRG1 exon 11 missense variant is not associated with autism in the Central Valley of Costa Rica.
abstract: BACKGROUND
  We are conducting a genetic study of autism in the isolated population of the Central Valley of Costa Rica (CVCR). A novel Neuregulin 1 (NRG1) missense variant (exon 11 G>T) was recently associated with psychosis and schizophrenia (SCZ) in the same population isolate.
  
  
  METHODS
  We genotyped the NRG1 exon 11 missense variant in 146 cases with autism, or autism spectrum disorder, with CVCR ancestry, and both parents when available (N = 267 parents) from 143 independent families. Additional microsatellites were genotyped to examine haplotypes bearing the exon 11 variant.
  
  
  RESULTS
  The NRG1 exon 11 G>T variant was found in 4/146 cases including one de novo occurrence. The frequency of the variant in case chromosomes was 0.014 and 0.045 in the parental non-transmitted chromosomes. At least 6 haplotypes extending 0.229 Mb were associated with the T allele. Three independent individuals, with no personal or family history of psychiatric disorder, shared at least a 1 megabase haplotype 5' to the T allele.
  
  
  CONCLUSIONS
  The NRG1 exon 11 missense variant is not associated with autism in the CVCR.
authors.affiliation: Department of Psychiatry, Mount Sinai School of Medicine, New York, New York, USA. alison.mcinnes@mssm.edu
authors.forename: Lynne A
authors.initials: LA
authors.lastname: McInnes
authors.forename: Leonid
authors.initials: L
authors.lastname: Ouchanov
authors.forename: Alisa
authors.initials: A
authors.lastname: Nakamine
authors.forename: Patricia
authors.initials: P
authors.lastname: Jimenez
authors.forename: Marcela
authors.initials: M
authors.lastname: Esquivel
authors.forename: Marietha
authors.initials: M
authors.lastname: Fallas
authors.forename: Silvia
authors.initials: S
authors.lastname: Monge
authors.forename: Pamela
authors.initials: P
authors.lastname: Bondy
authors.forename: Elina R
authors.initials: ER
authors.lastname: Manghi
mesh_terms: D000293:Adolescent; D001321:Autistic Disorder / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D003364:Costa Rica; D004252:DNA Mutational Analysis; D005091:Exons / Q000235:genetics; D005260:Female; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D008297:Male; D020125:Mutation, Missense; D009419:Nerve Tissue Proteins / Q000235:genetics*; D020890:Neuregulin-1
chemical_list: C094131:NRG1 protein, human; D009419:Nerve Tissue Proteins; D020890:Neuregulin-1