In:Specific Language Impairment: Current trends in research
Edited by Stavroula Stavrakaki
[Language Acquisition and Language Disorders 58] 2015
► pp. 7–34
The Genetics of Specific Language Impairment (SLI)
Published online: 11 August 2015
https://doi.org/10.1075/lald.58.01nud
https://doi.org/10.1075/lald.58.01nud
Specific language impairment (SLI) is diagnosed when a child has major problems
in learning to talk and/or understand language, despite showing normal
development in all other areas (Bishop 2006). In this chapter we will discuss
recent research on the genetics of SLI. We will introduce methods used in
human genetics and describe studies in which these methods were applied. We
will discuss how emerging genetic technologies may be used to investigate the
molecular basis of neurodevelopmental disorders and elucidate the biological
mechanisms influencing linguistic traits.
References (102)
1000 Genomes Project Consortium, Abecasis, G.R., Auton, A., Brooks, L.D., DePristo, M.A., Durbin, R.M., Handsaker, R.E., Kang, H.M., Marth, G.T. & McVean, G.A. 2012. An integrated map of genetic variation from 1,092 human genomes. Nature 491(7422): 56–65.
Abecasis, G.R., Cardon, L.R. & Cookson, W.O. 2000. A general test of association for quantitative traits in nuclear families. Am J Hum Genet 66(1): 279–292.
Abrahams, B.S., Tentler, D., Perederiy, J.V., Oldham, M.C., Coppola, G. & Geschwind, D.H. 2007. Genome-wide analyses of human perisylvian cerebral cortical patterning. Proc Natl Acad Sci U S A. 6;104(45): 17849–17854.
Abreu, P.C., Greenberg, D.A. & Hodge, S.E. 1999. Direct power comparisons between simple LOD scores and NPL scores for linkage analysis in complex diseases. Am J Hum Genet 65(3): 847–857.
Autism Genome Project Consortium, Szatmari, P., Paterson, A.D., Zwaigenbaum, L., Roberts, W., Brian, J., Liu, X.Q., Vincent, J.B., Skaug, J.L., Thompson, A.P., Senman, L., Feuk, L., Qian, C., Bryson, S.E., Jones, M.B., Marshall, C.R., Scherer, S.W., Vieland V.J., Bartlett, C., Mangin, L.V., Goedken, R., Segre, A., Pericak-Vance, M.A., Cuccaro, M.L., Gilbert, J.R., Wright, H.H., Abramson, R.K., Betancur, C., Bourgeron, T., Gillberg, C., Leboyer, M., Buxbaum, J.D., Davis, K.L., Hollander, E., Silverman, J.M., Hallmayer, J., Lotspeich, L., Sutcliffe, J.S., Haines, J.L., Folstein, S.E., Piven, J., Wassink, T.H., Sheffield, V., Geschwind, D.H., Bucan, M., Brown, W.T., Cantor, R.M., Constantino, J.N., Gilliam, T.C., Herbert, M., Lajonchere, C., Ledbetter, D.H., Lese-Martin, C., Miller, J., Nelson, S., Samango-Sprouse, C.A., Spence, S., State, M., Tanzi, R.E., Coon, H., Dawson, G., Devlin, B., Estes, A., Flodman, P., Klei, L., McMahon, W.M., Minshew, N., Munson, J., Korvatska, E., Rodier, P.M., Schellenberg, G.D., Smith, M., Spence, M.A., Stodgell, C., Tepper, P.G., Wijsman, E.M., Yu, C.E., Rogé, B., Mantoulan, C., Wittemeyer, K., Poustka, A., Felder, B., Klauck, S.M., Schuster, C., Poustka, F., Bölte, S., Feineis-Matthews, S., Herbrecht, E., Schmötzer, G., Tsiantis, J., Papanikolaou, K., Maestrini, E., Bacchelli, E., Blasi, F., Carone, S., Toma, C., Van Engeland, H., de Jonge, M., Kemner, C., Koop, F., Langemeijer, M., Hijmans, C., Staal, W.G., Baird, G., Bolton, P.F., Rutter, M.L., Weisblatt, E., Green, J., Aldred, C., Wilkinson, J.A., Pickles, A., Le Couteur, A., Berney, T., McConachie, H., Bailey, A.J., Francis, K., Honeyman, G., Hutchinson, A., Parr, J.R., Wallace, S., Monaco, A.P., Barnby, G., Kobayashi, K., Lamb, J.A., Sousa, I., Sykes, N., Cook, E.H., Guter, S.J., Leventhal, B.L., Salt, J., Lord, C., Corsello, C., Hus, V., Weeks, D.E., Volkmar, F., Tauber, M., Fombonne, E., Shih, A. & Meyer, K.J. 2007. Mapping autism risk loci using genetic linkage and chromosomal rearrangements. Nat Genet 39(3): 319–328.
Alarcón, M., Cantor, R.M., Liu, J., Gilliam, T.C., Geschwind, D.HAutism Genetic Research Exchange Consortium.; . 2002. Evidence for a language quantitative trait locus on chromosome 7q in multiplex autism families. Am J Hum Genet 70(1): 60–71.
Alarcón, M., Abrahams, B.S., Stone, J.L., Duvall, J.A., Perederiy, J.V., Bomar, J.M., Sebat, J., Wigler, M., Martin, C.L., Ledbetter, D.H., Nelson, S.F., Cantor, R.M. & Geschwind, D.H. 2008. Linkage, association, and gene-expression analyses identify CNTNAP2 as an autism-susceptibility gene. Am J Hum Genet 82(1):150–159.
American Psychiatric Association. 2000. Diagnostic and Statistical Manual of Mental Disorders, 4th edn, revised. Washington DC: American Psychiatric Press.
Anney, R., Klei, L., Pinto, D., Regan, R., Conroy, J., Magalhaes, T.R., Correia, C., Abrahams, B.S., Sykes, N., Pagnamenta, A.T., Almeida, J., Bacchelli, E., Bailey, A.J., Baird, G., Battaglia, A., Berney, T., Bolshakova, N., Bölte, S., Bolton, P.F., Bourgeron, T., Brennan, S., Brian, J., Carson, A.R., Casallo, G., Casey, J., Chu, S.H., Cochrane, L., Corsello, C., Crawford, E.L., Crossett, A., Dawson, G., de Jonge, M., Delorme, R., Drmic, I., Duketis, E., Duque, F., Estes, A., Farrar, P., Fernandez, B.A., Folstein, S.E., Fombonne, E., Freitag, C.M., Gilbert, J., Gillberg, C., Glessner, J.T., Goldberg, J., Green, J., Guter, S.J., Hakonarson, H., Heron, E.A., Hill, M., Holt, R., Howe, J.L., Hughes, G., Hus, V., Igliozzi, R., Kim, C., Klauck, S.M., Kolevzon, A., Korvatska, O., Kustanovich, V., Lajonchere, C.M., Lamb, J.A., Laskawiec, M., Leboyer, M., Le Couteur, A., Leventhal, B.L., Lionel, A.C., Liu, X.Q., Lord, C., Lotspeich, L., Lund, S.C., Maestrini, E., Mahoney, W., Mantoulan, C., Marshall, C.R., McConachie, H., McDougle, C.J., McGrath, J., McMahon, W.M., Melhem, N.M., Merikangas, A., Migita, O., Minshew, N.J., Mirza, G.K., Munson, J., Nelson, S.F., Noakes, C., Noor, A., Nygren, G., Oliveira, G., Papanikolaou, K., Parr, J.R., Parrini, B., Paton, T., Pickles, A., Piven, J., Posey, D.J., Poustka, A., Poustka, F., Prasad, A., Ragoussis, J., Renshaw, K., Rickaby, J., Roberts, W., Roeder, K., Roge, B., Rutter, M.L., Bierut, L.J., Rice, J.P., Salt, J., Sansom, K., Sato, D., Segurado, R., Senman, L., Shah, N., Sheffield, V.C., Soorya, L., Sousa, I., Stoppioni, V., Strawbridge, C., Tancredi, R., Tansey, K., Thiruvahindrapduram, B., Thompson, A.P., Thomson, S., Tryfon, A., Tsiantis, J., Van Engeland, H., Vincent, J.B., Volkmar, F., Wallace, S., Wang, K., Wang, Z., Wassink, T.H., Wing, K., Wittemeyer, K., Wood, S., Yaspan, B.L., Zurawiecki, D., Zwaigenbaum, L., Betancur, C., Buxbaum, J.D., Cantor, R.M., Cook, E.H., Coon, H., Cuccaro, M.L., Gallagher, L., Geschwind, D.H., Gill, M., Haines, J.L., Miller, J., Monaco, A.P., Nurnberger, J.I. Jr, Paterson, A.D., Pericak-Vance, M.A., Schellenberg, G.D., Scherer, S.W., Sutcliffe, J.S., Szatmari, P., Vicente, A.M., Vieland, V.J., Wijsman, E.M., Devlin, B. & Ennis, S. & Hallmayer J. 2010. A genome-wide scan for common alleles affecting risk for autism. Hum Mol Genet 19(20): 4072–4082.
Bacon, C. & Rappold, G.A. 2012. The distinct and overlapping phenotypic spectra of FOXP1 and FOXP2 in cognitive disorders. Hum Genet 131(11): 1687–1698.
Bakkaloglu, B., O’Roak, B.J., Louvi, A., Gupta, A.R., Abelson, J.F., Morgan, T.M., Chawarska, K., Klin, A., Ercan-Sencicek, A.G., Stillman, A.A., Tanriover, G., Abrahams, B.S., Duvall, J.A., Robbins, E.M., Geschwind, D.H., Biederer, T., Gunel, M., Lifton, R.P. & State, M.W. 2008. Molecular cytogenetic analysis and resequencing of contactin associated protein-like 2 in autism spectrum disorders. Am J Hum Genet 82(1): 165–173.
Barkley, R.A. 1997. Behavioral inhibition, sustained attention, and executive functions: constructing a unifying theory of ADHD. Psychol Bull 121(1): 65–94.
Bartlett, C.W., Flax, J.F., Logue, M.W., Vieland, V.J., Bassett, A.S., Tallal, P. & Brzustowicz, L.M. 2002. A major susceptibility locus for specific language impairment is located on 13q21. Am J Hum Genet 71(1): 45–55.
Bartlett, C.W., Flax, J.F., Logue, M.W., Smith, B.J., Vieland, V.J., Tallal, P. & Brzustowicz, L.M. 2004. Examination of potential overlap in autism and language loci on chromosomes 2, 7, and 13 in two independent samples ascertained for specific language impairment. Hum Hered 57(1): 10–20.
Bishop, D.V. 2003. Autism and specific language impairment: Categorical distinction or continuum? Novartis Foundation Symposium 251: 213–226.
Bishop, D.V. & Snowling, M.J. 2004 Developmental dyslexia and specific language impairment: Same or different? Psychol Bull 130(6): 858–886.
Bishop, D.V. 2006. What causes specific language impairment in children? Curr Dir Psychol Sci 15(5): 217–221.
Bradford, Y., Haines, J., Hutcheson, H., Gardiner, M., Braun, T., Sheffield, V., Cassavant, T., Huang, W., Wang, K., Vieland, V., Folstein, S., Santangelo, S. & Piven, J. 2001. Incorporating language phenotypes strengthens evidence of linkage to autism. Am J Med Genet 105(8): 539–547.
Brzustowicz, L.M., Hodgkinson, K.A., Chow, E.W., Honer, W.G. & Bassett, A.S. 2000. Location of a major susceptibility locus for familial schizophrenia on chromosome 1q21-q22. Science 288(5466): 678–682.
Buxbaum, J.D., Silverman, J.M., Smith, C.J., Kilifarski, M., Reichert, J., Hollander, E., Lawlor, B.A., Fitzgerald, M., Greenberg, D.A. & Davis, K.L. 2001. Evidence for a susceptibility gene for autism on chromosome 2 and for genetic heterogeneity. Am J Hum Genet 68(6): 1514–1520.
Ceroni, F., Simpson, N.H., Francks, C., Baird, G., Conti-Ramsden, G., Clark, A., Bolton, P.F., Hennessy, E.R., Donnelly, P., Bentley, D.R., Martin, H., IMGSAC, SLI Consortium, WGS500 Consortium, Parr, J., Pagnamenta, A.T., Maestrini, E., Bacchelli, E., Fisher, S.E. & Newbury, D.F. 2014. Homozygous microdeletion of exon 5 in ZNF277 in a girl with specific language impairment. Eur J Hum Genet 22(10): 1165–1171.
Cohen, N.J., Vallance, D.D., Barwick, M., Im, N., Menna, R., Horodezky, N.B. & Isaacson, L. 2000. The interface between ADHD and language impairment: an examination of language, achievement, and cognitive processing. J Child Psychol Psychiatry 41(3): 353–362.
Cook, E.H. Jr. & Scherer, S.W. 2008. Copy-number variations associated with neuropsychiatric conditions. Nature 455(7215): 919–923.
DeFries, J.C. & Fulker, D.W. 1985. Multiple regression analysis of twin data. Behav Genet 15(5): 467–473.
Devlin, B. & Scherer, S.W. 2012. Genetic architecture in autism spectrum disorder. Curr Opin Genet Dev 22(3): 229–237.
Eicher, J.D., Powers, N.R., Miller, L.L., Akshoomoff, N., Amaral, D.G., Bloss, C.S., Libiger, O., Schork, N.J., Darst, B.F., Casey, B.J., Chang, L., Ernst, T., Frazier, J., Kaufmann, W.E., Keating, B., Kenet, T., Kennedy, D., Mostofsky, S., Murray, S.S., Sowell, E.R., Bartsch, H., Kuperman, J.M., Brown, T.T., Hagler, D.J., Jr., Dale, A.M., Jernigan, T.L., Pourcain, B.S., Davey Smith, G., Ring, S.M., Gruen, J.RPediatric Imaging, Neurocognition, and Genetics Study.; . 2013. Genome-wide association study of shared components of reading disability and language impairment. Genes Brain Behav 12(8): 792–801.
Elia, J., Gai, X., Xie, H.M., Perin, J.C., Geiger, E., Glessner, J.T., D’arcy, M., deBerardinis, R., Frackelton, E., Kim, C., Lantieri, F., Muganga, B.M., Wang, L., Takeda, T., Rappaport, E.F., Grant, S.F., Berrettini, W., Devoto, M., Shaikh T.H., Hakonarson, H. & White, P.S. 2010. Rare structural variants found in attention-deficit hyperactivity disorder are preferentially associated with neurodevelopmental genes. Mol Psychiatry 15(6): 637–646.
Ewens, W.J., Li, M., Spielman, R.S. 2008. A review of family-based tests for linkage disequilibrium between a quantitative trait and a genetic marker. PLoS Genet 4(9): e1000180.
Falcaro, M., Pickles, A., Newbury, D.F., Addis, L., Banfield, E., Fisher, S.E., Monaco, A.P., Simkin, Z., Conti-Ramsden, GSLI Consortium.; 2008. Genetic and phenotypic effects of phonological short-term memory and grammatical morphology in specific language impairment. Genes Brain Behav 7(4): 393–402.
Fisher, S.E. & Scharff, C. 2009.
FOXP2 as a molecular window into speech and language. Trends Genet 25(4): 166–177.
Friedman, J.I., Vrijenhoek, T., Markx, S., Janssen, I.M., van der Vliet, W.A., Faas, B.H., Knoers, N.V., Cahn, W., Kahn, R.S., Edelmann, L., Davis, K.L., Silverman, J.M., Brunner, H.G., van Kessel, A.G., Wijmenga, C., Ophoff, R.A. & Veltman, J.A. 2008.
CNTNAP2 gene dosage variation is associated with schizophrenia and epilepsy. Mol Psychiatry 13(3): 261–266.
Fulker, D.W., Cardon, L.R., DeFries, J.C., Kimberling, W.J., Pennington, B.F. & Smith, S.D. 1991. Multiple regression analysis of sib-pair data on reading to detect quantitative trait loci. Reading Writing Interdiscip J 3(3): 299–313.
Gehman, L.T., Meera, P., Stoilov, P., Shiue, L., O’Brien, J.E., Meisler, M.H., Ares, M. Jr., Otis, T.S. & Black, D.L. 2012. The splicing regulator Rbfox2 is required for both cerebellar development and mature motor function. Genes Dev 26(5): 445–460.
Gialluisi, A., Newbury, D.F., Wilcutt, E.G., Olson, R.K., DeFries, J.C., Brandler, W.M., Pennington, B.F., Smith, S.D., Scerri, T.S., Simpson, N.H., SLI Consortium, Luciano, M., Evans, D.M., Bates, T.C., Stein, J.F., Talcott, J.B., Monaco, A.P., Paracchini, S., Francks, C. & Fisher, S.E. 2014. Genome-wide screening for DNA variants associated with reading and language traits. Genes Brain Behav 13(7): 686–701.
Glatt, S.J., Stone, W.S., Nossova, N., Liew, C.C., Seidman, L.J. & Tsuang, M.T. 2011. Similarities and differences in peripheral blood gene-expression signatures of individuals with schizophrenia and their first-degree biological relatives. Am J Med Genet B Neuropsychiatr Genet 156B: 869–887.
Greenberg, D.A., Abreu, P. & Hodge, S.E. 1998. The power to detect linkage in complex disease by means of simple LOD-score analyses. Am J Hum Genet 63(3): 870–879.
Haseman, J.K. & Elston, R.C.1972. The investigation of linkage between a quantitative trait and a marker locus. Behav Genet 2(1): 3–19.
International Molecular Genetic Study of Autism Consortium (IMGSAC). 1998. A full genome screen for autism with evidence for linkage to a region on chromosome 7q. Hum Mol Genet 7(3): 571–578.
. 2001. A genomewide screen for autism: Strong evidence for linkage to chromosomes 2q, 7q, and 16p. Am J Hum Genet 69(3): 570–581.
Jones, R.W., Ring, S., Tyfield, L., Hamvas, R., Simmons, H., Pembrey, M., Golding, JALSPAC Study Team.; . 2000. A new human genetic resource: a DNA bank established as part of the Avon longitudinal study of pregnancy and childhood (ALSPAC). Eur J Hum Genet 8(9): 653–660.
Kamal, M., Valanciute, A., Dahan, K., Ory, V., Pawlak, A., Lang, P., Guellaen, G. & Sahali, D. 2009. C-mip interacts physically with RelA and inhibits nuclear factor kappa B activity. Mol Immunol 46(5): 991–998.
Lai, C.S., Fisher, S.E., Hurst, J.A., Vargha-Khadem, F. & Monaco, A.P. 2001. A forkhead-domain gene is mutated in a severe speech and language disorder. Nature 413(6855): 519–523.
Lesch, K.P., Timmesfeld, N., Renner, T.J., Halperin, R., Röser, C., Nguyen, T.T., Craig, D.W., Romanos, J., Heine, M., Meyer, J., Freitag, C., Warnke, A., Romanos, M., Schäfer, H., Walitza, S., Reif, A., Stephan, D.A. & Jacob, C. 2008. Molecular genetics of adult ADHD: Converging evidence from genome-wide association and extended pedigree linkage studies. J Neural Transm 115(11): 1573–1585.
Lin P.I., Vance, J.M., Pericak-Vance, M.A. & Martin, E.R. 2007. No gene is an island: The flip-flop phenomenon. Am J Hum Genet 80(3): 531–538.
Liu J., Nyholt, D.R., Magnussen, P., Parano, E., Pavone, P., Geschwind, D., Lord, C., Iversen, P., Hoh, J., Ott, J., Gilliam, T.CAutism Genetic Resource Exchange Consortium.; . 2001. A genomewide screen for autism susceptibility loci. Am J Hum Genet 69(2): 327–340.
Luciano, M., Evans, D.M., Hansell, N.K., Medland, S.E., Montgomery, G.W., Martin, N.G., Wright, M.J. & Bates, T.C. 2013. A genome-wide association study for reading and language abilities in two population cohorts. Genes Brain Behav 12: 645–652.
McCarthy, M.I., Abecasis, G.R., Cardon, L.R., Goldstein, D.B., Little, J., Ioannidis, J.P. & Hirschhorn, J.N. 2008. Genome-wide association studies for complex traits: Consensus, uncertainty and challenges. Nat Rev Genet 9(5): 356–369.
Mémet, S. 2006. NF-kappaB functions in the nervous system: From development to disease. Biochem Pharmacol 72(9): 1180–1195.
Mick, E., Todorov, A., Smalley S., Hu, X., Loo, S., Todd, R.D., Biederman, J., Byrne, D., Dechairo, B., Guiney, A., McCracken, J., McGough, J., Nelson, S.F., Reiersen, A.M., Wilens, T.E., Wozniak, J., Neale, B.M. & Faraone, S.V. 2010. Family-based genome-wide association scan of attention-deficit/hyperactivity disorder. J Am Acad Child Adolesc Psychiatry 49: 898–905.
Missiaen, L., Dode, L., Vanoevelen, J., Raeymaekers, L. & Wuytack, F. 2007. Calcium in the Golgi apparatus. Cell Calcium 41(5): 405–416.
Neale, B.M., Lasky-Su, J., Anney, R., Franke, B., Zhou, K., Maller, J.B., Vasquez, A.A., Asherson, P., Chen, W., Banaschewski, T., Buitelaar, J., Ebstein, R., Gill, M., Miranda, A., Oades, R.D., Roeyers, H., Rothenberger, A., Sergeant, J., Steinhausen, H.C., Sonuga-Barke, E., Mulas, F., Taylor, E., Laird, N., Lange, C., Daly, M. & Faraone, S.V. 2008. Genome-wide association scan of attention deficit hyperactivity disorder. Am J Med Genet B Neuropsychiatr Genet 147B: 1337–1344.
Neale, B.M., Medland, S., Ripke, S., Anney, R.J., Asherson, P., Buitelaar, J., Franke, B., Gill, M., Kent, L., Holmans, P., Middleton, F., Thapar, A., Lesch, K.P., Faraone, S.V., Daly, M., Nguyen, T.T., Schafer, H., Steinhausen, H.C., Reif, A., Renner, T.J., Romanos, M., Romanos, J., Warnke, A., Walitza, S., Freitag, C., Meyer, J., Palmason, H., Rothenberger, A., Hawi, Z., Sergeant, J., Roeyers, H., Mick, E. & Biederman, J. 2010. Case-control genome-wide association study of attention-deficit/hyperactivity disorder. J Am Acad Child Adolesc Psychiatry 49: 906–920.
Neale, B.M., Medland, S.E., Ripke, S., Asherson, P., Franke, B., Lesch, K.P., Faraone, S.V., Nguyen, T.T., Schafer, H., Holmans, P., Daly, M., Steinhausen, H.C., Freitag, C., Reif, A., Renner, T.J., Romanos, M., Romanos, J., Walitza, S., Warnke, A., Meyer, J., Palmason, H., Buitelaar, J., Vasquez, A.A., Lambregts-Rommelse, N., Gill, M., Anney, R.J., Langely, K., O’Donovan, M., Williams, N., Owen, M., Thapar, A., Kent, L., Sergeant, J., Roeyers, H., Mick, E., Biederman, J., Doyle, A., Smalley, S., Loo, S., Hakonarson, H., Elia, J., Todorov, A., Miranda, A., Mulas, F., Ebstein, RP., Rothenberger, A., Banaschewski, T., Oades, R.D., Sonuga-Barke, E., McGough, J., Nisenbaum, L., Middleton, F., Hu, X. & Nelson, S. 2010. Meta-analysis of genome-wide association studies of attention-deficit/hyperactivity disorder. J Am Acad Child Adolesc Psychiatry 49: 884–897.
Newbury, D.F., Bonora, E., Lamb, J.A., Fisher, S.E., Lai, C.S., Baird, G., Jannoun, L., Slonims, V., Stott, C.M., Merricks, M.J., Bolton, P.F., Bailey, A.J., Monaco, A.PInternational Molecular Genetic Study of Autism Consortium.; . 2002.
FOXP2 is not a major susceptibility gene for autism or specific language impairment. Am J Hum Genet 70(5): 1318–1327.
Newbury, D.F., Winchester, L., Addis, L., Paracchini, S., Buckingham, L.L., Clark, A., Cohen, W., Cowie, H., Dworzynski, K., Everitt, A., Goodyer, I.M., Hennessy, E., Kindley, A.D., Miller, L.L., Nasir, J., O’Hare, A., Shaw, D., Simkin, Z., Simonoff, E., Slonims, V., Watson, J., Ragoussis, J., Fisher, S.E., Seckl, J.R., Helms, P.J., Bolton, P.F., Pickles, A., Conti-Ramsden, G., Baird, G., Bishop, D.V. & Monaco, A.P. 2009.
CMIP and ATP2C2 modulate phonological short-term memory in language impairment. Am J Hum Genet 85(2): 264–272.
Nudel, R., Simpson, N.H., Baird, G., O’Hare, A., Conti-Ramsden, G., Bolton, P.F., Hennessy, E.R., SLI Consortium, Monaco, A.P., Knight, J.C., Winney, B., Fisher, S.E. & Newbury, D.F. 2014a. Associations of HLA alleles with specific language impairment. J Neurodev Disord 6(1): 1.
Nudel, R., Simpson, N.H., Baird, G., O’Hare, A., Conti-Ramsden, G., Bolton, P.F., Hennessy, E.R., SLI Consortium, Ring, S.M., Davey, Smith, G., Francks, C., Paracchini, S., Monaco, A.P., Fisher, S.E. & Newbury, D.F. 2014b. Genome-wide association analyses of child genotype effects and parent-of-origin effects in specific language impairment. Genes Brain Behav 13(4): 418–429.
Odell, J.D., Warren, R.P., Warren, W.L., Burger, R.A. & Maciulis, A. 1997. Association of genes within the major histocompatibility complex with attention deficit hyperactivity disorder. Neuropsychobiology 35: 181–186.
Ogdie, M.N., Macphie, I.L., Minassian, S.L., Yang, M., Fisher, S.E., Francks, C., Cantor, R.M., McCracken, J.T., McGough, J.J., Nelson, S.F., Monaco, A.P. & Smalley, S.L. 2003. A genomewide scan for attention-deficit/hyperactivity disorder in an extended sample: suggestive linkage on 17p11. Am J Hum Genet 72: 1268–1279.
O’Roak, B.J., Deriziotis, P., Lee, C., Vives, L., Schwartz, J.J., Girirajan, S., Karakoc, E., Mackenzie, A.P., Ng, S.B., Baker, C., Rieder, M.J., Nickerson, D.A., Bernier, R., Fisher, S.E., Shendure, J. & Eichler, E.E. 2011. Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations. Nat Genet 43(6): 585–9.
O’Roak, B.J., Vives, L., Girirajan, S., Karakoc, E., Krumm, N., Coe, B.P., Levy, R., Ko, A., Lee, C., Smith, J.D., Turner, E.H., Stanaway, I.B., Vernot, B., Malig, M., Baker, C., Reilly, B., Akey, J.M., Borenstein, E., Rieder, M.J., Nickerson, D.A., Bernier, R., Shendure, J. & Eichler, E.E. 2012. Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations. Nature 485(7397): 246–250.
Palmer, C.G., Hsieh, H.J., Reed, E.F., Lonnqvist, J., Peltonen, L., Woodward, J.A. & Sinsheimer, J.S. 2006. HLA-B maternal-fetal genotype matching increases risk of schizophrenia. Am J Hum Genet 79: 710–715.
Peter, B., Matsushita, M., Oda, K. & Raskind, W. 2014.
De novo microdeletion of BCL11A is associated with severe speech sound disorder. Am J Med Genet A 164A(8): 2091–2096.
Petrin, A.L., Giacheti, C.M., Maximino, L.P., Abramides, D.V., Zanchetta, S., Rossi, N.F., Richieri-Costa, A. & Murray, J.C. 2010. Identification of a microdeletion at the 7q33-q35 disrupting the CNTNAP2 gene in a Brazilian stuttering case. Am J Med Genet A 152A(12): 3164–3172.
Poelmans, G., Pauls, D.L., Buitelaar, J.K. & Franke, B. 2011. Integrated genome-wide association study findings: Identification of a neurodevelopmental network for attention deficit hyperactivity disorder. Am J Psychiatry 168: 365–377.
Poot, M., Beyer, V., Schwaab, I., Damatova, N., Van’t Slot, R., Prothero, J., Holder, S.E. & Haaf, T. 2010. Disruption of CNTNAP2 and additional structural genome changes in a boy with speech delay and autism spectrum disorder. Neurogenetics 11(1): 81–89.
Pratt, S.C., Daly, M.J., Kruglyak, L. 2000. Exact multipoint quantitative-trait linkage analysis in pedigrees by variance components. Am J Hum Genet 66(3):1153–1157.
Rapin, I. & Dunn, M. 2003. Update on the language disorders of individuals on the autistic spectrum. Brain Dev 25(3): 166–72.
Redon, R., Ishikawa, S., Fitch, K.R., Feuk, L., Perry, G.H., Andrews, T.D., Fiegler, H., Shapero, M.H., Carson, A.R., Chen, W., Cho, E.K., Dallaire, S., Freeman, J.L., González, J.R., Gratacòs, M., Huang, J., Kalaitzopoulos, D., Komura, D., MacDonald, J.R., Marshall, C.R., Mei, R., Montgomery, L., Nishimura, K., Okamura, K., Shen, F., Somerville, M.J., Tchinda, J., Valsesia, A., Woodwark, C., Yang, F., Zhang, J., Zerjal, T., Zhang, J., Armengol, L., Conrad, D.F., Estivill, X., Tyler-Smith, C., Carter, N.P., Aburatani, H., Lee, C., Jones, K.W., Scherer, S.W. & Hurles, M.E. 2006. Global variation in copy number in the human genome. Nature 444(7118): 444–454.
Roll, P., Vernes, S.C., Bruneau, N., Cillario, J., Ponsole-Lenfant, M., Massacrier, A., Rudolf, G., Khalife, M., Hirsch, E., Fisher, S.E. & Szepetowski, P. 2010. Molecular networks implicated in speech-related disorders: FOXP2 regulates the SRPX2/uPAR complex. Hum Mol Genet 19(24): 4848–4860.
Sebat, J., Lakshmi, B., Troge, J., Alexander, J., Young, J., Lundin, P., Månér, S., Massa, H., Walker, M., Chi, M., Navin, N., Lucito, R., Healy, J., Hicks, J., Ye, K., Reiner, A., Gilliam, T.C., Trask, B., Patterson, N., Zetterberg, A. & Wigler, M. 2004. Large-scale copy number polymorphism in the human genome. Science 305(5683): 525–528.
Sehested, L.T., Møller, R.S., Bache, I., Andersen, N.B., Ullmann, R., Tommerup, N. & Tümer, Z. 2010. Deletion of 7q34-q36.2 in two siblings with mental retardation, language delay, primary amenorrhea, and dysmorphic features. Am J Med Genet A 152A(12): 3115–3119.
Shao, Y., Raiford, K.L., Wolpert, C.M., Cope, H.A., Ravan, S.A., Ashley-Koch, A.A., Abramson, R.K., Wright, H.H., DeLong, R.G., Gilbert, J.R., Cuccaro, M.L. & Pericak-Vance, M.A. 2002. Phenotypic homogeneity provides increased support for linkage on chromosome 2 in autistic disorder. Am J Hum Genet 70(4): 1058–1061.
SLI consortium (SLIC). 2002. A genomewide scan identifies two novel loci involved in specific language impairment. Am J Hum Genet 70(2): 384–398.
. 2004. Highly significant linkage to the SLI1 locus in an expanded sample of individuals affected by specific language impairment. Am J Hum Genet 74(6): 122512-38.
Smith, A.W., Holden, K.R., Dwivedi, A., Dupont, B.R. & Lyons, M.J. 2014. Deletion of 16q24.1 Supports a role for the ATP2C2 gene in Specific Language Impairment. J Child Neurol [Epub ahead of print].
Spiteri, E., Konopka, G., Coppola, G., Bomar, J., Oldham, M., Ou, J., Vernes, S.C., Fisher, S.E., Ren, B. & Geschwind, D.H. 2007. Identification of the transcriptional targets of FOXP2, a gene linked to speech and language, in developing human brain. Am J Hum Genet 81(6): 1144–1157.
Stergiakouli, E., Hamshere, M., Holmans, P., Langley, K., Zaharieva, I., deCODE Genetics, Psychiatric GWAS Consortium, Hawi, Z., Kent, L., Gill, M., Williams, N., Owen, M.J., O’Donovan, M. & Thapar, A. 2012. Investigating the contribution of common genetic variants to the risk and pathogenesis of ADHD. Am J Psychiatry 169(2): 186–194.
Strauss, K.A., Puffenberger, E.G., Huentelman, M.J., Gottlieb, S., Dobrin, S.E., Parod, J.M., Stephan, D.A. & Morton, D.H. 2006. Recessive symptomatic focal epilepsy and mutant contactin-associated protein-like 2. N Engl J Med 354(13): 1370–1377.
. 2001. The heritability of language: A review and metaanalysis of twin, adoption and linkage studies. Language 77(4): 647–723.
Tager-Flusberg, H. & Joseph, R.M. 2003. Identifying neurocognitive phenotypes in autism. Philos Trans R SocLond B BiolSci 358(1430): 303–314.
Taylor L.J., Maybery, M.T. & Whitehouse, A.J. 2012. Do children with Specific Language Impairment have a cognitive profile reminiscent of autism? A review of the literature. J Autism Dev Disord 42(10): 2067–2083.
Tirosh, E. & Cohen, A. 1998. Language deficit with attention-deficit disorder: A prevalent comorbidity. J Child Neurol 13(10): 493–497.
Torres, A.R., Sweeten, T.L., Cutler, A., Bedke, B.J., Fillmore, M., Stubbs, E.G. & Odell, D. 2006. The association and linkage of the HLA-A2 class I allele with autism. Hum Immunol 67: 346–351.
Van der Aa, N., Vandeweyer, G., Reyniers, E., Kenis, S., Dom, L., Mortier, G., Rooms, L. & Kooy, R.F. 2012. Haploinsufficiency of CMIP in a girl with autism spectrum disorder and developmental delay due to a de novo deletion on chromosome 16q23.2. Autism Res 5(4): 277–281.
Verkerk, A.J., Mathews, C.A., Joosse, M., Eussen, B.H., Heutink, P., Oostra, B.ATourette Syndrome Association International Consortium for Genetics.; . 2003.
CNTNAP2 is disrupted in a family with Gilles de la Tourette syndrome and obsessive compulsive disorder. Genomics 82(1): 1–9.
Vernes, S.C., Spiteri, E., Nicod, J., Groszer, M., Taylor, J.M., Davies, K.E., Geschwind, D.H. & Fisher, S.E. 2007. High-throughput analysis of promoter occupancy reveals direct neural targets of FOXP2, a gene mutated in speech and language disorders. Am J Hum Genet 81(6): 1232–1250.
Vernes, S.C., Newbury, D.F., Abrahams, B.S., Winchester, L., Nicod, J., Groszer, M., Alarcón, M., Oliver, P.L., Davies, K.E., Geschwind, D.H., Monaco, A.P. & Fisher, S.E. 2008. A functional genetic link between distinct developmental language disorders. N Engl J Med 359(22): 2337–2345.
Vieland, V.J., Wang, K. & Huang, J. 2001. Power to detect linkage based on multiple sets of data in the presence of locus heterogeneity: Comparative evaluation of model-based linkage methods for affected sib pair data. Hum Hered 51(4): 199–208.
Villanueva, P., de Barbieri, Z., Palomino, H.M. & Palomino, H. 2008. High prevalence of specific language impairment in Robinson Crusoe Island. A possible founder effect. Rev Med Chil 136(2):186–192.
Villanueva, P., Newbury, D.F., Jara, L., De Barbieri, Z., Mirza, G., Palomino, H.M., Fernández, M.A., Cazier, J.B., Monaco, A.P. & Palomino, H. 2011. Genome-wide analysis of genetic susceptibility to language impairment in an isolated Chilean population. Eur J Hum Genet 19(6): 687–695.
Voineagu I., Wang, X., Johnston, P., Lowe, J.K., Tian, Y., Horvath, S., Mill, J., Cantor, R.M., Blencowe, B.J. & Geschwind, D.H. 2011. Transcriptomic analysis of autistic brain reveals convergent molecular pathology. Nature 474(7351): 380–384.
Wang, Y.-p., Tian, Y., Zhu, J.-h., Yang, Y.-f., Zhang, H.-b., Wang, C.-h., Liu, L., L.V.Y & Xiong, L.-p. 2008. Study on the association between HLA-DRB1 genes and ADHD in Xi’an. Chinese Journal of Child Health Care 16: 010.
Wang, K., Zhang, H., Ma, D., Bucan, M., Glessner, J.T., Abrahams, B.S., Salyakina, D., Imielinski, M., Bradfield, J.P., Sleiman, P.M., Kim, C.E., Hou, C., Frackelton, E., Chiavacci, R., Takahashi, N., Sakurai, T., Rappaport, E., Lajonchere, C.M., Munson, J., Estes, A., Korvatska, O., Piven, J., Sonnenblick, L.I., Alvarez Retuerto, A.I., Herman, E.I., Dong, H., Hutman, T., Sigman, M., Ozonoff, S., Klin, A., Owley, T., Sweeney, J.A., Brune, C.W., Cantor, R.M., Bernier, R., Gilbert, J.R., Cuccaro, M.L., McMahon, W.M., Miller, J., State, M.W., Wassink, T.H., Coon, H., Levy, S.E., Schultz, R.T., Nurnberger, J.I., Haines, J.L., Sutcliffe, J.S., Cook, E.H., Minshew, N.J., Buxbaum, J.D., Dawson, G., Grant, S.F., Geschwind, D.H., Pericak-Vance, M.A., Schellenberg, G.D. & Hakonarson, H. 2009. Common genetic variants on 5p14.1 associate with autism spectrum disorders. Nature 459(7246): 528–533.
Weiss, L.A., Arking, D.E.; Gene Discovery Project of Johns Hopkins & the Autism Consortium, Daly, M.J. & Chakravarti, A. 2009. A genome-wide linkage and association scan reveals novel loci for autism. Nature 461(7265): 802–808.
Whitehouse, A.J., Bishop, D.V., Ang, Q.W., Pennell, C.E. & Fisher, S.E. 2011.
CNTNAP2 variants affect early language development in the general population. Genes Brain Behav 10(4): 451–456.
Xu, C., Aragam, N., Li, X., Villa, E.C., Wang, L., Briones, D., Petty, L., Posada, Y., Arana, T.B., Cruz, G., Mao, C., Camarillo, C., Su, B.B., Escamilla, M.A. & Wang, K. 2013.
BCL9 and C9orf5 are associated with negative symptoms in schizophrenia: meta-analysis of two genome-wide association studies. PLoS One 8: e51674.
Zhang, X.M., Sheng, S.R., Wang, X.Y., Bin, L.H., Wang, J.R. & Li, G.Y. 2004. Expression of tumor related gene NAG6 in gastric cancer and restriction fragment length polymorphism analysis. World J Gastroenterol 10(9):1361–1364.
Zheng, J.Q. & Poo, M.M. 2007. Calcium signaling in neuronal motility. Annu Rev Cell Dev Biol 23: 375–404.
Zweier, C., de Jong, E.K., Zweier, M., Orrico, A., Ousager, L.B., Collins, A.L., Bijlsma, E.K., Oortveld, M.A., Ekici, A.B., Reis, A., Schenck, A. & Rauch, A. 2009.
CNTNAP2 and NRXN1 are mutated in autosomal-recessive Pitt-Hopkins-like mental retardation and determine the level of a common synaptic protein in Drosophila. Am J Hum Genet 85(5): 655–666.
