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Highly Significant Linkage to the SLI1 Locus in an Expanded Sample of Individuals Affected by Specific Language Impairment
specific language impairment sli defined unexplained failure acquire normal language skills despite adequate intelligence opportunity reported elsewhere fullgenome scan 98 nuclear families affected disorder use three quantitative traits language ability expressive receptive tests clinical evaluation language fundamentals test nonsense word repetition screen implicated two quantitative trait loci one chromosome 16q sli1 second chromosome 19q sli2 however second independent genome screen performed another group use parametric linkage analyses extended pedigrees found little evidence involvement either regions sli investigate loci collected second sample consisting 86 families 367 individuals 174 independent sib pairs probands whose language skills 15 sd mean age hasemanelston linkage analysis resulted maximum lod score mls 284 chromosome 16 mls 231 chromosome 19 represent significant linkage 2 level amalgamation wave 2 sample cohort used genome screen generated total 184 families 840 individuals 393 independent sib pairs analysis linkage within pooled group strengthened evidence linkage sli1 yielded highly significant lod score mls 746 interval empirical p0004 furthermore linkage locus also demonstrated three readingrelated measures basic reading mls 149 spelling mls 267 reading comprehension mls 199 subtests wechsler objectives reading dimensions