The NRG1 exon 11 missense variant is not associated with autism in the Central Valley of Costa Rica

McInnes, Lynne A.; Ouchanov, Leonid; Nakamine, Alisa; Jimenez, Patricia; Esquivel, Marcela; Fallas, Marietha; Monge, Silvia; Bondy, Pamela; Manghi, Elina R.
January 2007
BMC Psychiatry;2007, Vol. 7, p21
Academic Journal
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. Conclusion: The NRG1 exon 11 missense variant is not associated with autism in the CVCR.


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