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

Pia Villanueva, Dianne F Newbury, Lilian Jara, Zulema De Barbieri, Ghazala Mirza, Hernán M Palomino, María Angélica Fernández, Jean-Baptiste Cazier, Anthony P Monaco, Hernán Palomino

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38 Citations (Scopus)


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.

Original languageEnglish
Pages (from-to)687-95
Number of pages9
JournalEuropean Journal of Human Genetics
Issue number6
Publication statusPublished - 19 Jun 2011


  • Child
  • Child, Preschool
  • Chile
  • Chromosome Mapping
  • Chromosomes, Human, Pair 7
  • Female
  • Founder Effect
  • Genetic Linkage
  • Genetic Predisposition to Disease
  • Genome, Human
  • Genome-Wide Association Study
  • Genotype
  • Humans
  • Language Development Disorders
  • Loss of Heterozygosity
  • Male
  • Models, Genetic
  • Pedigree
  • Phenotype


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