Investigation of Dyslexia and SLI Risk Variants in Reading- and Language-Impaired Subjects
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Abecasis GR, Cardon LR, Cookson WO (2000) A general test of association for quantitative traits in nuclear families. Am J Hum Genet 66:279–292
Abecasis GR, Cherny SS, Cookson WO, Cardon LR (2002) Merlin—rapid analysis of dense genetic maps using sparse gene flow trees. Nat Genet 30:97–101
Alarcon M, Abrahams BS, Stone JL, Duvall JA, Perederiy JV, Bomar JM, Sebat J, Wigler M, Martin CL, Ledbetter DH, Nelson SF, Cantor RM, Geschwind DH (2008) Linkage, association, and gene-expression analyses identify CNTNAP2 as an autism-susceptibility gene. Am J Hum Genet 82:150–159
Anitha A, Nakamura K, Yamada K, Suda S, Thanseem I, Tsujii M, Iwayama Y, Hattori E, Toyota T, Miyachi T, Iwata Y, Suzuki K, Matsuzaki H, Kawai M, Sekine Y, Tsuchiya K, Sugihara G, Ouchi Y, Sugiyama T, Koizumi K, Higashida H, Takei N, Yoshikawa T, Mori N (2008) Genetic analyses of roundabout (ROBO) axon guidance receptors in autism. Am J Med Genet B Neuropsychiatr Genet 147B:1019–1027
Anthoni H, Zucchelli M, Matsson H, Muller-Myhsok B, Fransson I, Schumacher J, Massinen S, Onkamo P, Warnke A, Griesemann H, Hoffmann P, Nopola-Hemmi J, Lyytinen H, Schulte-Korne G, Kere J, Nothen MM, Peyrard-Janvid M (2007) A locus on 2p12 containing the co-regulated MRPL19 and C2ORF3 genes is associated to dyslexia. Hum Mol Genet 16:667–677
Arking DE, Cutler DJ, Brune CW, Teslovich TM, West K, Ikeda M, Rea A, Guy M, Lin S, Cook EH, Chakravarti A (2008) A common genetic variant in the neurexin superfamily member CNTNAP2 increases familial risk of autism. Am J Hum Genet 82:160–164
Bakkaloglu B, O’roak BJ, Louvi A, Gupta AR, Abelson JF, Morgan TM, Chawarska K, Klin A, Ercan-Sencicek AG, Stillman AA, Tanriover G, Abrahams BS, Duvall JA, Robbins EM, Geschwind DH, Biederer T, Gunel M, Lifton RP, State MW (2008) Molecular cytogenetic analysis and resequencing of contactin associated protein-like 2 in autism spectrum disorders. Am J Hum Genet 82:165–173
Ballarati L, Recalcati MP, Bedeschi MF, Lalatta F, Valtorta C, Bellini M, Finelli P, Larizza L, Giardino D (2009) Cytogenetic, FISH and array-CGH characterization of a complex chromosomal rearrangement carried by a mentally and language impaired patient. Eur J Med Genet 52:218–223
Barry JG, Yasin I, Bishop DV (2007) Heritable risk factors associated with language impairments. Genes Brain Behav 6:66–76
Bates TC, Lind PA, Luciano M, Montgomery GW, Martin NG, Wright MJ (2009) Dyslexia and DYX1C1: deficits in reading and spelling associated with a missense mutation. Mol Psychiatr 15:1190–1196
Bellini G, Bravaccio C, Calamoneri F, Donatella Cocuzza M, Fiorillo P, Gagliano A, Mazzone D, Del Giudice EM, Scuccimarra G, Militerni R, Pascotto A (2005) No evidence for association between dyslexia and DYX1C1 functional variants in a group of children and adolescents from Southern Italy. J Mol Neurosci 27:311–314
Bishop DVM (1997) Uncommon understanding. development and disorders of language comprehension in children. Psychology Press, Hove
Bishop DV, Snowling MJ (2004) Developmental dyslexia and specific language impairment: same or different? Psychol Bull 130:858–886
Burden V, Stott CM, Forge J, Goodyer I (1996) The Cambridge language and speech project (CLASP). I. Detection of language difficulties at 36 to 39 months. Dev Med Child Neurol 38:613–631
Catts HW, Adlof SM, Hogan TP, Weismer SE (2005) Are specific language impairment and dyslexia distinct disorders? J Speech Lang Hear Res 48:1378–1396
Clark A, O’hare A, Watson J, Cohen W, Cowie H, Elton R, Nasir J, Seckl J (2007) Severe receptive language disorder in childhood—familial aspects and long-term outcomes: results from a Scottish study. Arch Dis Child 92:614–619
Conti-Ramsden G, Botting N (1999) Characteristics of children attending language units in England: a national study of 7-year-olds. Int J Lang Commun Disord 34:359–366
Conti-Ramsden G, Crutchley A, Botting N (1997) The extent to which psychometric tests differentiate subgroups of children with SLI. J Speech Lang Hear Res 40:765–777
Cope N, Harold D, Hill G, Moskvina V, Stevenson J, Holmans P, Owen MJ, O’donovan MC, Williams J (2005) Strong evidence that KIAA0319 on chromosome 6p is a susceptibility gene for developmental dyslexia. Am J Hum Genet 76:581–591
Couto JM, Gomez L, Wigg K, Ickowicz A, Pathare T, Malone M, Kennedy JL, Schachar R, Barr CL (2009a) Association of attention-deficit/hyperactivity disorder with a candidate region for reading disabilities on chromosome 6p. Biol Psychiatr 66:368–375
Couto JM, Livne-Bar I, Huang K, Xu Z, Cate-Carter T, Feng Y, Wigg K, Humphries T, Tannock R, Kerr EN, Lovett MW, Bremner R, Barr CL (2009b) Association of reading disabilities with regions marked by acetylated H3 histones in KIAA0319. Am J Med Genet B Neuropsychiatr Genet 153B:447–462
Dahdouh F, Anthoni H, Tapia-Paez I, Peyrard-Janvid M, Schulte-Korne G, Warnke A, Remschmidt H, Ziegler A, Kere J, Muller-Myhsok B, Nothen MM, Schumacher J, Zucchelli M (2009) Further evidence for DYX1C1 as a susceptibility factor for dyslexia. Psychiatr Genet 19:59–63
Dennis MY, Paracchini S, Scerri TS, Prokunina-Olsson L, Knight JC, Wade-Martins R, Coggill P, Beck S, Green ED, Monaco AP (2009) A common variant associated with dyslexia reduces expression of the KIAA0319 gene. PLoS Genet 5:e1000436
Elia J, Gai X, Xie HM, Perin JC, Geiger E, Glessner JT, D’arcy M, Deberardinis R, Frackelton E, Kim C, Lantieri F, Muganga BM, Wang L, Takeda T, Rappaport EF, Grant SF, Berrettini W, Devoto M, Shaikh TH, Hakonarson H, White PS (2009) Rare structural variants found in attention-deficit hyperactivity disorder are preferentially associated with neurodevelopmental genes. Mol Psychiatr 15:637–646
Elliot C, Murray D, Pearson L (1983) British Abilities Scales. NFER-Nelson, Windsor
Falcaro M, Pickles A, Newbury DF, Addis L, Banfield E, Fisher SE, Monaco AP, Simkin Z, Conti-Ramsden G (2008) Genetic and phenotypic effects of phonological short-term memory and grammatical morphology in specific language impairment. Genes Brain Behav 7:393–402
Fisher SE, Francks C, Marlow AJ, Macphie IL, Newbury DF, Cardon LR, Ishikawa-Brush Y, Richardson AJ, Talcott JB, Gayan J, Olson RK, Pennington BF, Smith SD, Defries JC, Stein JF, Monaco AP (2002) Independent genome-wide scans identify a chromosome 18 quantitative-trait locus influencing dyslexia. Nat Genet 30:86–91
Francks C, Paracchini S, Smith SD, Richardson AJ, Scerri TS, Cardon LR, Marlow AJ, Macphie IL, Walter J, Pennington BF, Fisher SE, Olson RK, Defries JC, Stein JF, Monaco AP (2004) A 77-kilobase region of chromosome 6p22.2 is associated with dyslexia in families from the United Kingdom and from the United States. Am J Hum Genet 75:1046–1058
Friedman JI, Vrijenhoek T, Markx S, Janssen IM, Van Der Vliet WA, Faas BH, Knoers NV, Cahn W, Kahn RS, Edelmann L, Davis KL, Silverman JM, Brunner HG, Van Kessel AG, Wijmenga C, Ophoff RA, Veltman JA (2008) CNTNAP2 gene dosage variation is associated with schizophrenia and epilepsy. Mol Psychiatr 13:261–266
Gallagher A, Frederickson N (1995) The phonological assessment battery (PhAB): an initial assessment of its theoretical and practical utility. Educ Child Psychol 12:53–67
Gathercole SE, Willis CS, Baddeley AD, Emslie H (1994) The children’s test of nonword repetition: a test of phonological working memory. Memory 2:103–127
Hannula-Jouppi K, Kaminen-Ahola N, Taipale M, Eklund R, Nopola-Hemmi J, Kaariainen H, Kere J (2005) The axon guidance receptor gene ROBO1 is a candidate gene for developmental dyslexia. PLoS Genet 1:e50
Harold D, Paracchini S, Scerri T, Dennis M, Cope N, Hill G, Moskvina V, Walter J., Richardson AJ, Owen MJ, Stein JF, Green ED, O’donovan MC, Williams J, Monaco AP (2006) Further evidence that the KIAA0319 gene confers susceptibility to developmental dyslexia. Mol Psychiatry 11:1085–1091, 1061
Jackman C, Horn ND, Molleston JP, Sokol DK (2009) Gene associated with seizures, autism, and hepatomegaly in an Amish girl. Pediatr Neurol 40:310–313
Jastak S, Wilkson G (1984) Wide-range achievement test (revised). Jastak Associates, Wilmington
Lai CS, Fisher SE, Hurst JA, Vargha-Khadem F, Monaco AP (2001) A forkhead-domain gene is mutated in a severe speech and language disorder. Nature 413:519–523
Lesch KP, Timmesfeld N, Renner TJ, Halperin R, Roser C, Nguyen TT, Craig DW, Romanos J, Heine M, Meyer J, Freitag C, Warnke A, Romanos M, Schafer H, Walitza S, Reif A, Stephan DA, Jacob C (2008) Molecular genetics of adult ADHD: converging evidence from genome-wide association and extended pedigree linkage studies. J Neural Transm 115:1573–1585
Lin PI, Vance JM, Pericak-Vance MA, Martin ER (2007) No gene is an island: the flip-flop phenomenon. Am J Hum Genet 80:531–538
Lind PA, Luciano M, Wright MJ, Montgomery GW, Martin NG, Bates TC (2010) Dyslexia and DCDC2: normal variation in reading and spelling is associated with DCDC2 polymorphisms in an Australian population sample. Eur J Hum Genet 18:668–673
Luciano M, Lind PA, Duffy DL, Castles A, Wright MJ, Montgomery GW, Martin NG, Bates TC (2007) A haplotype spanning KIAA0319 and TTRAP is associated with normal variation in reading and spelling ability. Biol Psychiatr 62:811–817
Ludwig KU, Roeske D, Schumacher J, Schulte-Korne G, Konig IR, Warnke A, Plume E, Ziegler A, Remschmidt H, Muller-Myhsok B, Nothen MM, Hoffmann P (2008) Investigation of interaction between DCDC2 and KIAA0319 in a large German dyslexia sample. J Neural Transm 115:1587–1589
Marino C, Giorda R, Luisa Lorusso M, Vanzin L, Salandi N, Nobile M, Citterio A, Beri S, Crespi V, Battaglia M, Molteni M (2005) A family-based association study does not support DYX1C1 on 15q21.3 as a candidate gene in developmental dyslexia. Eur J Hum Genet 13:491–499
Marino C, Citterio A, Giorda R, Facoetti A, Menozzi G, Vanzin L, Lorusso ML, Nobile M, Molteni M (2007) Association of short-term memory with a variant within DYX1C1 in developmental dyslexia. Genes Brain Behav 6:640–646
Marlow AJ, Fisher SE, Richardson AJ, Francks C, Talcott JB, Monaco AP, Stein JF, Cardon LR (2001) Investigation of quantitative measures related to reading disability in a large sample of sib-pairs from the UK. Behav Genet 31:219–230
Mcarthur GM, Hogben JH, Edwards VT, Heath SM, Mengler ED (2000) On the “specifics” of specific reading disability and specific language impairment. J Child Psychol Psychiatr 41:869–874
Meng H, Hager K, Held M, Page GP, Olson RK, Pennington BF, Defries JC, Smith SD, Gruen JR (2005a) TDT-association analysis of EKN1 and dyslexia in a Colorado twin cohort. Hum Genet 118:87–90
Meng H, Smith SD, Hager K, Held M, Liu J, Olson RK, Pennington BF, Defries JC, Gelernter J, O’reilly-Pol T, Somlo S, Skudlarski P, Shaywitz SE, Shaywitz BA, Marchione K, Wang Y, Paramasivam M, Loturco JJ, Page GP, Gruen JR (2005b) DCDC2 is associated with reading disability and modulates neuronal development in the brain. Proc Natl Acad Sci USA 102:17053–17058
Newbury DF, Bishop DV, Monaco AP (2005) Genetic influences on language impairment and phonological short-term memory. Trends Cogn Sci 9:528–534
Newbury DF, Winchester L, Addis L, Paracchini S, Buckingham LL, Clark A, Cohen W, Cowie H, Dworzynski K, Everitt A, Goodyer IM, Hennessy E, Kindley AD, Miller LL, Nasir J, O’hare A, Shaw D, Simkin Z, Simonoff E, Slonims V, Watson J, Ragoussis J, Fisher SE, Seckl JR, Helms PJ, Bolton PF, Pickles A, Conti-Ramsden G, Baird G, Bishop DV, Monaco AP (2009) CMIP and ATP2C2 modulate phonological short-term memory in language impairment. Am J Hum Genet 85:264–272
Newbury DF, Fisher SE, Monaco AP (2010) Recent advances in the genetics of language impairment. Genome Med 2:6
Nopola-Hemmi J, Myllyluoma B, Haltia T, Taipale M, Ollikainen V, Ahonen T, Voutilainen A, Kere J, Widen E (2001) A dominant gene for developmental dyslexia on chromosome 3. J Med Genet 38:658–664
Olson R, Forsberg H, Wise B, Rack J (1994) In: Lyon GR (ed) Frames of reference for the assessment of learning disabilities: New views on measurement issues. Baltimore: Paul H Brookes
Paracchini S, Thomas A, Castro S, Lai C, Paramasivam M, Wang Y, Keating BJ, Taylor JM, Hacking DF, Scerri T, Francks C, Richardson AJ, Wade-Martins R, Stein JF, Knight JC, Copp AJ, Loturco J, Monaco AP (2006) The chromosome 6p22 haplotype associated with dyslexia reduces the expression of KIAA0319, a novel gene involved in neuronal migration. Hum Mol Genet 15:1659–1666
Paracchini S, Steer CD, Buckingham LL, Morris AP, Ring S, Scerri T, Stein J, Pembrey ME, Ragoussis J, Golding J, Monaco AP (2008) Association of the KIAA0319 dyslexia susceptibility gene with reading skills in the general population. Am J Psychiatr 165:1576–1584
Pennington BF, Bishop DV (2009) Relations among speech, language, and reading disorders. Annu Rev Psychol 60:283–306
Poot M, Beyer V, Schwaab I, Damatova N, Van’t Slot R, Prothero J, Holder SE, Haaf T (2009) Disruption of CNTNAP2 and additional structural genome changes in a boy with speech delay and autism spectrum disorder. Neurogenetics 11:81–89
Purcell S, Neale B, Todd-Brown K, Thomas L, Ferreira MA, Bender D, Maller J, Sklar P, De Bakker PI, Daly MJ, Sham PC (2007) PLINK: a tool set for whole-genome association and population-based linkage analyses. Am J Hum Genet 81:559–575
Rice ML, Smith SD, Gayan J (2009) Convergent genetic linkage and associations to language, speech and reading measures in families of probands with specific language impairment. J Neurodev Disord 1:264–282
Rossi E, Verri AP, Patricelli MG, Destefani V, Ricca I, Vetro A, Ciccone R, Giorda R, Toniolo D, Maraschio P, Zuffardi O (2008) A 12 Mb deletion at 7q33–q35 associated with autism spectrum disorders and primary amenorrhea. Eur J Med Genet 51:631
Rust J, Golombok S, Trickey G (1993) Wechsler objective reading dimensions. Psychological Corporation, Sidcup
Scerri TS, Schulte-Korne G (2009) Genetics of developmental dyslexia. Eur Child Adolesc Psychiatr 19:179–197
Scerri TS, Fisher SE, Francks C, Macphie IL, Paracchini S, Richardson AJ, Stein JF, Monaco AP (2004) Putative functional alleles of DYX1C1 are not associated with dyslexia susceptibility in a large sample of sibling pairs from the UK. J Med Genet 41:853–857
Schumacher J, Anthoni H, Dahdouh F, Konig IR, Hillmer AM, Kluck N, Manthey M, Plume E, Warnke A, Remschmidt H, Hulsmann J, Cichon S, Lindgren CM, Propping P, Zucchelli M, Ziegler A, Peyrard-Janvid M, Schulte-Korne G, Nothen MM, Kere J (2006) Strong genetic evidence of DCDC2 as a susceptibility gene for dyslexia. Am J Hum Genet 78:52–62
Semel EM, Wiig EH, Secord W (1992) Clinical evaluation of language fundamentals—revised. Phychological Corporation, San Antonio
SLIC (2002) A genomewide scan identifies two novel loci involved in specific language impairment. Am J Hum Genet 70:384–398
SLIC (2004) Highly significant linkage to the SLI1 locus in an expanded sample of individuals affected by specific language impairment. Am J Hum Genet 74:1225–1238
Snowling M, Bishop DV, Stothard SE (2000) Is preschool language impairment a risk factor for dyslexia in adolescence? J Child Psychol Psychiatr 41:587–600
Snowling MJ, Muter V, Carroll J (2007) Children at family risk of dyslexia: a follow-up in early adolescence. J Child Psychol Psychiatr 48:609–618
Strauss KA, Puffenberger EG, Huentelman MJ, Gottlieb S, Dobrin SE, Parod JM, Stephan DA, Morton DH (2006) Recessive symptomatic focal epilepsy and mutant contactin-associated protein-like 2. N Engl J Med 354:1370–1377
Taipale M, Kaminen N, Nopola-Hemmi J, Haltia T, Myllyluoma B, Lyytinen H, Muller K, Kaaranen M, Lindsberg PJ, Hannula-Jouppi K, Kere J (2003) A candidate gene for developmental dyslexia encodes a nuclear tetratricopeptide repeat domain protein dynamically regulated in brain. Proc Natl Acad Sci USA 100:11553–11558
Verkerk AJ, Mathews CA, Joosse M, Eussen BH, Heutink P, Oostra BA (2003) CNTNAP2 is disrupted in a family with Gilles de la Tourette syndrome and obsessive compulsive disorder. Genomics 82:1–9
Vernes SC, Newbury DF, Abrahams BS, Winchester L, Nicod J, Groszer M, Alarcon M, Oliver PL, Davies KE, Geschwind DH, Monaco AP, Fisher SE (2008) A functional genetic link between distinct developmental language disorders. N Engl J Med 359:2337–2345
Wechsler D (1981) Wecshler adult intelligence scales (revised). Psychological Corporation, San Antonio
Wechsler D (1992) Wechsler intelligence scale for children – third UK edn. Psychological Corporation, London
Wigg KG, Couto JM, Feng Y, Anderson B, Cate-Carter TD, Macciardi F, Tannock R, Lovett MW, Humphries TW, Barr CL (2004) Support for EKN1 as the susceptibility locus for dyslexia on 15q21. Mol Psychiatr 9:1111–1121
Wigginton JE, Abecasis GR (2005) PEDSTATS: descriptive statistics, graphics and quality assessment for gene mapping data. Bioinformatics 21:3445–3447
Ylisaukko-Oja T, Peyrard-Janvid M, Lindgren CM, Rehnstrom K, Vanhala R, Peltonen L, Jarvela I, Kere J (2005) Family-based association study of DYX1C1 variants in autism. Eur J Hum Genet 13:127–130
Zhang L, Cui X, Schmitt K, Hubert R, Navidi W, Arnheim N (1992) Whole genome amplification from a single cell: implications for genetic analysis. Proc Natl Acad Sci USA 89:5847–5851
Zweier C, De Jong EK, Zweier M, Orrico A, Ousager LB, Collins AL, Bijlsma EK, Oortveld MA, Ekici AB, 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 85:655–666