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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."xsd:string
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http://purl.uniprot.org/citations/17519028http://purl.uniprot.org/core/author"Jimenez P."xsd:string
http://purl.uniprot.org/citations/17519028http://purl.uniprot.org/core/author"McInnes L.A."xsd:string
http://purl.uniprot.org/citations/17519028http://purl.uniprot.org/core/author"Monge S."xsd:string
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http://purl.uniprot.org/citations/17519028http://purl.uniprot.org/core/author"Fallas M."xsd:string
http://purl.uniprot.org/citations/17519028http://purl.uniprot.org/core/author"Manghi E.R."xsd:string
http://purl.uniprot.org/citations/17519028http://purl.uniprot.org/core/author"Nakamine A."xsd:string
http://purl.uniprot.org/citations/17519028http://purl.uniprot.org/core/author"Ouchanov L."xsd:string
http://purl.uniprot.org/citations/17519028http://purl.uniprot.org/core/date"2007"xsd:gYear
http://purl.uniprot.org/citations/17519028http://purl.uniprot.org/core/name"BMC Psychiatry"xsd:string
http://purl.uniprot.org/citations/17519028http://purl.uniprot.org/core/pages"21"xsd:string
http://purl.uniprot.org/citations/17519028http://purl.uniprot.org/core/title"The NRG1 exon 11 missense variant is not associated with autism in the Central Valley of Costa Rica."xsd:string
http://purl.uniprot.org/citations/17519028http://purl.uniprot.org/core/volume"7"xsd:string
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