The Genetic Population Structure of Robinson Crusoe Island, Chile.

Studies examining genetic conditions common in Latin America are highly underrepresented in the scientific literature. Understanding of the population structure is limited, particularly Chile, in part due to the lack of available population specific data. An important first-step in elucidating disease mechanisms in Latin America countries is to understand the genetic structure of isolated populations.

Candidate gene variant effects on language disorders in Robinson Crusoe Island.

Robinson Crusoe Island is a geographically and socially isolated settlement located over 600 km west of the Port of Valparíso, Chile. An unusually high incidence (30%) of the Chilean equivalent of developmental language disorder (in Spanish, (TEL)), has been reported in Islander children, with 90% of these affected children found to be direct descendants of a pair of original founder-brothers, therefore strongly suggesting a shared genetic basis. This study reports a comprehensive examination of 34 genes that have been previously directly implicated in language-related mechanisms.

Family aggregation of language impairment in an isolated Chilean population from Robinson Crusoe Island.

Background: It has been reported that the inhabitants of the Chilean Robinson Crusoe Island have an increased frequency of specific language impairment (SLI) or developmental language disorder (DLD).

Aims: To explore the familial aggregation of DLD in this community.

Methods & Procedures: We assessed the frequency of DLD amongst colonial children between the ages of 3 and 8;11 years (50 individuals from 45 nuclear families).

Exome sequencing in an admixed isolated population indicates NFXL1 variants confer a risk for specific language impairment.

Children affected by Specific Language Impairment (SLI) fail to acquire age appropriate language skills despite adequate intelligence and opportunity. SLI is highly heritable, but the understanding of underlying genetic mechanisms has proved challenging. In this study, we use molecular genetic techniques to investigate an admixed isolated founder population from the Robinson Crusoe Island (Chile), who are affected by a high incidence of SLI, increasing the power to discover contributory genetic factors.

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

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.