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Speech Sound Disorder Influenced by a Locus in 15q14 Region

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Abstract

Despite a growing body of evidence indicating that speech sound disorder (SSD) has an underlying genetic etiology, researchers have not yet identified specific genes predisposing to this condition. The speech and language deficits associated with SSD are shared with several other disorders, including dyslexia, autism, Prader-Willi Syndrome (PWS), and Angelman’s Syndrome (AS), raising the possibility of gene sharing. Furthermore, we previously demonstrated that dyslexia and SSD share genetic susceptibility loci. The present study assesses the hypothesis that SSD also shares susceptibility loci with autism and PWS. To test this hypothesis, we examined linkage between SSD phenotypes and microsatellite markers on the chromosome 15q14–21 region, which has been associated with autism, PWS/AS, and dyslexia. Using SSD as the phenotype, we replicated linkage to the 15q14 region (P = 0.004). Further modeling revealed that this locus influenced oral-motor function, articulation and phonological memory, and that linkage at D15S118 was potentially influenced by a parent-of-origin effect (LOD score increase from 0.97 to 2.17, P = 0.0633). These results suggest shared genetic determinants in this chromosomal region for SSD, autism, and PWS/AS.

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Acknowledgments

This research was supported by the NIDCD grants DC00528 and DC004005. CS is supported in part by the NICHD Multidisciplinary Clinical Research Career Development Programs Grant K12 HD049091. Some of the results of this paper were obtained by using the program package S.A.G.E. Release 5.0, which is supported by U. S. Public Health Resource Grant RR03655 from the National Center for Research Resources.

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  1. Department of Epidemiology and Biostatistics, Case Western Reserve University, Wolstein Research Building Room 1315, 2103 Cornell Rd, Cleveland, OH, 44106, USA

    Catherine M. Stein, Christopher Millard, Amy Kluge, Lara E. Miscimarra, Kevin C. Cartier & Sudha K. Iyengar

  2. Department of Pediatrics, Rainbow Babies & Childrens Hospital, Case Western Reserve University, Cleveland, OH, USA

    Lisa A. Freebairn, Amy J. Hansen, H. Gerry Taylor & Barbara A. Lewis

  3. Waisman Center, University of Wisconsin-Madison, Madison, WI, USA

    Lawrence D. Shriberg

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  1. Catherine M. Stein
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  2. Christopher Millard
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  3. Amy Kluge
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Correspondence to Sudha K. Iyengar.

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Stein, C.M., Millard, C., Kluge, A. et al. Speech Sound Disorder Influenced by a Locus in 15q14 Region. Behav Genet 36, 858–868 (2006). https://doi.org/10.1007/s10519-006-9090-7

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