The S.O.G.R.I. Consortium
A Genomewide Scan Identifies Two Novel Loci Involved in Specific Language Impairment**Members of the consortium are listed in the Appendix.
approximately 4 englishspeaking children affected specific language impairment sli disorder development language skills despite adequate opportunity normal intelligence several studies indicated importance genetic factors sli positive family history confers increased risk development concordance monozygotic twins consistently exceeds dizygotic twins however like many behavioral traits sli assumed genetically complex several loci contributing overall risk compiled 98 families drawn epidemiological clinical populations probands whose standard language scores fall 15 sd mean age systematic genomewide quantitativetraitlocus analysis three languagerelated measures ie clinical evaluation language fundamentalsrevised celfr receptive expressive scales nonword repetition nwr test yielded two regions one chromosome 16 one 19 maximum lod scores 355 simulations suggest two multipoint results nwr linkage chromosome 16q significant empirical p values reaching 105 hasemanelston analysis lod score 355 p00003 variancecomponents vc analysis lod score 257 p00008 singlepoint analyses provided support involvement locus three markers peak linkage yielding lod scores 19 19q locus linked celfr expressivelanguage score exceeds threshold suggestive linkage types analysis performedmultipoint analysis lod score 355 empirical p00004 vc lod score 284 empirical p00027 singlepoint analysis lod score 249 vc lod score 222 furthermore clinical epidemiological samples showed independent evidence linkage chromosome 16q chromosome 19q indicating may represent universally important loci sli thus general risk factors language impairment approximately 4 englishspeaking children affected specific language impairment sli disorder development language skills despite adequate opportunity normal intelligence several studies indicated importance genetic factors sli positive family history confers increased risk development concordance monozygotic twins consistently exceeds dizygotic twins however like many behavioral traits sli assumed genetically complex several loci contributing overall risk compiled 98 families drawn epidemiological clinical populations probands whose standard language scores fall 15 sd mean age systematic genomewide quantitativetraitlocus analysis three languagerelated measures ie clinical evaluation language fundamentalsrevised celfr receptive expressive scales nonword repetition nwr test yielded two regions one chromosome 16 one 19 maximum lod scores 355 simulations suggest two multipoint results nwr linkage chromosome 16q significant empirical p values reaching 105 hasemanelston analysis lod score 355 p00003 variancecomponents vc analysis lod score 257 p00008 singlepoint analyses provided support involvement locus three markers peak linkage yielding lod scores 19 19q locus linked celfr expressivelanguage score exceeds threshold suggestive linkage types analysis performedmultipoint analysis lod score 355 empirical p00004 vc lod score 284 empirical p00027 singlepoint analysis lod score 249 vc lod score 222 furthermore clinical epidemiological samples showed independent evidence linkage chromosome 16q chromosome 19q indicating may represent universally important loci sli thus general risk factors language impairment