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    Eur J Hum Genet. 2011 Jun;19(6):687-95. doi: 10.1038/ejhg.2010.251. Epub 2011 Jan 19.

    Genome-wide analysis of genetic susceptibility to language impairment in an isolated Chilean population.

    Source

    Human Genetics Division, Faculty of Medicine, University of Chile, Santiago, Chile. piavillahk@gmail.com

    Abstract

    Specific language impairment (SLI) is an unexpected deficit in the acquisition of language skills and affects between 5 and 8% of pre-school children. Despite its prevalence and high heritability, our understanding of the aetiology of this disorder is only emerging. In this paper, we apply genome-wide techniques to investigate an isolated Chilean population who exhibit an increased frequency of SLI. Loss of heterozygosity (LOH) mapping and parametric and non-parametric linkage analyses indicate that complex genetic factors are likely to underlie susceptibility to SLI in this population. Across all analyses performed, the most consistently implicated locus was on chromosome 7q. This locus achieved highly significant linkage under all three non-parametric models (max NPL = 6.73, P = 4.0 × 10(-11)). In addition, it yielded a HLOD of 1.24 in the recessive parametric linkage analyses and contained a segment that was homozygous in two affected individuals. Further, investigation of this region identified a two-SNP haplotype that occurs at an increased frequency in language-impaired individuals (P = 0.008). We hypothesise that the linkage regions identified here, in particular that on chromosome 7, may contain variants that underlie the high prevalence of SLI observed in this isolated population and may be of relevance to other populations affected by language impairments.

    PMID:
    21248734
    [PubMed - indexed for MEDLINE]
    PMCID:
    PMC3110042
    Free PMC Article

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