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A genomewide scan identifies two novel loci involved in specific language impairment.

    American Journal of Human Genetics
    |January 16, 2002
    PubMed
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    Genetic factors contribute to specific language impairment (SLI). This study identified two key chromosomal regions, 16q and 19q, linked to language development in children with SLI.

    Area of Science:

    • Genetics
    • Developmental Psychology
    • Linguistics

    Background:

    • Specific language impairment (SLI) affects approximately 4% of English-speaking children.
    • Genetic factors are implicated in SLI, evidenced by family history and twin studies.
    • SLI is considered genetically complex, with multiple contributing loci.

    Purpose of the Study:

    • To identify specific genetic loci associated with SLI.
    • To analyze genomewide quantitative-trait-locus for language-related measures in affected families.

    Main Methods:

    • Compiled data from 98 families with probands meeting SLI criteria (language scores >=1.5 SD below mean).
    • Conducted genomewide quantitative-trait-locus analysis on three language measures: CELF-R receptive/expressive scales and nonword repetition (NWR).

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  • Utilized Haseman-Elston (HE) and variance-components (VC) analyses for linkage detection.

    • Main Results:

    • Identified significant linkage regions on chromosome 16q (for NWR) and 19q (for CELF-R expressive score).
    • The 16q linkage showed maximum LOD scores of 3.55 (HE) and 2.57 (VC), with empirical P values as low as 10(-5).
    • The 19q linkage exceeded suggestive linkage thresholds across multiple analysis types, with LOD scores up to 3.55.

    Conclusions:

    • Chromosomes 16q and 19q harbor loci significantly associated with SLI.
    • These identified loci may represent universal risk factors for language impairment.
    • Findings support the genetic complexity of SLI and pinpoint specific regions for further investigation.