Multipoint genome-wide linkage scan for nonword repetition in a multigenerational family further supports chromosome 13q as a locus for verbal trait disorders
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  • 作者:D. T. Truong ; L. D. Shriberg ; S. D. Smith ; K. L. Chapman…
  • 刊名:Human Genetics
  • 出版年:2016
  • 出版时间:December 2016
  • 年:2016
  • 卷:135
  • 期:12
  • 页码:1329-1341
  • 全文大小:868 KB
  • 刊物类别:Biomedical and Life Sciences
  • 刊物主题:Biomedicine
    Human Genetics
    Molecular Medicine
    Internal Medicine
    Metabolic Diseases
  • 出版者:Springer Berlin / Heidelberg
  • ISSN:1432-1203
  • 卷排序:135
文摘
Verbal trait disorders encompass a wide range of conditions and are marked by deficits in five domains that impair a person’s ability to communicate: speech, language, reading, spelling, and writing. Nonword repetition is a robust endophenotype for verbal trait disorders that is sensitive to cognitive processes critical to verbal development, including auditory processing, phonological working memory, and motor planning and programming. In the present study, we present a six-generation extended pedigree with a history of verbal trait disorders. Using genome-wide multipoint variance component linkage analysis of nonword repetition, we identified a region spanning chromosome 13q14–q21 with LOD = 4.45 between 52 and 55 cM, spanning approximately 5.5 Mb on chromosome 13. This region overlaps with SLI3, a locus implicated in reading disability in families with a history of specific language impairment. Our study of a large multigenerational family with verbal trait disorders further implicates the SLI3 region in verbal trait disorders. Future studies will further refine the specific causal genetic factors in this locus on chromosome 13q that contribute to language traits.
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