Journal of Neurodevelopmental Disorders

, Volume 1, Issue 4, pp 264-282

First online:

Open Access This content is freely available online to anyone, anywhere at any time.

Convergent genetic linkage and associations to language, speech and reading measures in families of probands with Specific Language Impairment

  • Mabel L. RiceAffiliated withDepartment of Speech, language, Hearing, University of Kansas Email author 
  • , Shelley D. SmithAffiliated withDepartment of Pediatrics and the Munroe Meyer Institute for Genetics and Rehabilitation, University of Nebraska Medical Center
  • , Javier GayánAffiliated withDepartment of Structural Genomics, Neocodex


We analyzed genetic linkage and association of measures of language, speech and reading phenotypes to candidate regions in a single set of families ascertained for SLI. Sib-pair and family-based analyses were carried out for candidate gene loci for Reading Disability (RD) on chromosomes 1p36, 3p12-q13, 6p22, and 15q21, and the speech-language candidate region on 7q31 in a sample of 322 participants ascertained for Specific Language Impairment (SLI). Replication or suggestive replication of linkage was obtained in all of these regions, but the evidence suggests that the genetic influences may not be identical for the three domains. In particular, linkage analysis replicated the influence of genes on chromosome 6p for all three domains, but association analysis indicated that only one of the candidate genes for reading disability, KIAA0319, had a strong effect on language phenotypes. The findings are consistent with a multiple gene model of the comorbidity between language impairments and reading disability and have implications for neurocognitive developmental models and maturational processes.


Gene linkage Language, reading, speech phenotypes Language impairments Specific language impairment Gene associations