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Genetic and phenotypic effects of phonological short-term memory and grammatical morphology in specific language impairment

Falcaro, M and Pickles, A. and Newbury, Dianne F. and Addis, L and Banfield, E and Fisher, Simon E. and Monaco, A P and Simkin, Z. and Conti-Ramsden, G. and Cohen, Wendy (2008) Genetic and phenotypic effects of phonological short-term memory and grammatical morphology in specific language impairment. Genes, Brain and Behavior, 7 (4). pp. 393-402. ISSN 1601-1848

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Deficits in phonological short-term memory and aspects of verb grammar morphology have been proposed as phenotypic markers of specific language impairment (SLI) with the suggestion that these traits are likely to be under different genetic influences. This investigation in 300 first-degree relatives of 93 probands with SLI examined familial aggregation and genetic linkage of two measures thought to index these two traits, non-word repetition and tense marking. In particular, the involvement of chromosomes 16q and 19q was examined as previous studies found these two regions to be related to SLI. Results showed a strong association between relatives’ and probands’ scores on non-word repetition. In contrast, no association was found for tense marking when examined as a continuous measure. However, significant familial aggregation was found when tense marking was treated as a binary measure with a cut-off point of −1.5 SD, suggestive of the possibility that qualitative distinctions in the trait may be familial while quantitative variability may be more a consequence of non-familial factors. Linkage analyses supported previous findings of the SLI Consortium of linkage to chromosome 16q for phonological short-term memory and to chromosome 19q for expressive language. In addition, we report new findings that relate to the past tense phenotype. For the continuous measure, linkage was found on both chromosomes, but evidence was stronger on chromosome 19. For the binary measure, linkage was observed on chromosome 19 but not on chromosome 16.