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Cited by 122Language Development and DisordersReading and Literacy DevelopmentGenetics and Neurodevelopmental Disorders

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

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Rice, Mabel L., Smith, Shelley D., Gayán, Javier·2009·Journal of Neurodevelopmental Disorders
DOI 10.1007/s11689-009-9031-xPMC PMC2788915
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Abstract

UNLABELLED: 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. ELECTRONIC SUPPLEMENTARY MATERIAL: The online version of this article (doi:10.1007/s11689-009-9031-x) contains supplementary material, which is available to authorized users.

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References 94 · Cited by 122

Research works printed but not linked: 23

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Authors
Rice, M. L., Smith, S. D., & Gayán, J.
Affiliations
  • University of Kansas (US)
  • University of Nebraska Medical Center (US)
Corresponding author
Rice, Mabel L.
ORCID
Rice, Mabel L.
Venue
Journal of Neurodevelopmental Disorders
Publisher
Springer Science and Business Media LLC
Published
2009-08-26
Volume
1
Issue
4
Pages
264-282
ISSN
  • 1866-1947 (ISSN-L)
  • 1866-1955
DOI
10.1007/s11689-009-9031-x
PMC
PMC2788915
OpenAlex
W2131141565
Cited by
122
References
94
Citations by year
2026: 2 · 2024: 3 · 2023: 5 · 2022: 5 · 2021: 4 · 2020: 5 · 2019: 8 · 2018: 7 · 2017: 4 · 2016: 5 · 2015: 9 · 2014: 10 · 2013: 14 · 2012: 18
FWCI
24.01
Type
journal article
Language
en
Open access
Licence
cc-by-nc
Locations
  • Journal of Neurodevelopmental Disorders (publishedVersion, cc-by-nc)
  • Europe PMC (PubMed Central) (publishedVersion, cc-by-nc)
  • PubMed Central (publishedVersion, cc-by-nc)
  • PubMed (publishedVersion)
  • KU ScholarWorks (The University of Kansas) (submittedVersion, other-oa)
Funders
National Institute on Deafness and Other Communication Disorders (R01DC001803, R01DC005226)
Topics
  • Social Sciences › Psychology › Developmental and Educational Psychology › Language Development and Disorders
  • Social Sciences › Psychology › Developmental and Educational Psychology › Reading and Literacy Development
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
Keywords
specific language impairment, reading disorders, genetic linkage, genetic association, language phenotypes, KIAA0319, chromosome 6p, chromosome 1p36, chromosome 7q31, comorbidities, neurocognitive development, sib-pair analysis, family-based association

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