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

Journal of Neurodevelopmental Disorders

Volumn 1, Issue 4, 2009, Pages 264-282

  Rice, Mabel L ^a   Smith, Shelley D ^b   Gayán, Javier ^c  

^a University of Kansas   (United States)

^b UNIVERSITY OF NEBRASKA MEDICAL CENTER   (United States)

^c Neocodex   (Spain)

Author keywords

Gene associations; Gene linkage; Language; Language impairments; Reading; Specific language impairment; Speech phenotypes

Indexed keywords

EID: 77950852556     PISSN: 18661947     EISSN: 18661955     Source Type: Journal    
DOI: 10.1007/s11689-009-9031-x     Document Type: Article

References (106)

1. SLIConsortium. A genomewide scan identifies two novel loci involved in specific language impairment. Am J Hum Genet. 2002;70:384-98.
2. SLIConsortium. Highly significant linkage to the SLI1 locus in an expanded sample of individuals affected by specific language impairment. Am J Hum Genet. 2004;74:1225-38.
3. Falcaro M, Pickles A, Newbury DF. Genetics and phenotypic effects of phonological short-term memory and grammatical morphology in specific language impairment. Genes Brain Behav. 2008;7:393-402.
4. Pennington BF, Bishop DVM. Relations among speech, language, and reading disorders,. Annu Rev Psychol. 2009;60:283-306.
5. Vernes SC, Newbury DF, Abrahams BS. A functional genetic link between distinct developmental language disorders. N Eng J Med. 2008;359:2337-45.
6. McGrath L, Smith SD, Pennington BF. Breakthroughs in the Search for Dyslexia Candidate Genes,. Trends Mol Med. 2006;12:333-41.
7. Monaco PM. Multivariate linkage analysis of specific language impairment (SLI). Ann Hum Genet. 2007;71:660-73.
8. Tomblin JB, Records N, Buckwater P. Prevalence of specific language impairment in kindergarten children. J Speech Lang Hear Res. 1997;40:1245-60.
9. Leonard L. Children with Specific Language Impairment. Cambridge: MIT Press; 1998.
10. Rice ML, Taylor CL, Zubrick SR. Language outcomes of 7-year-old children with or without a history of late language emergence at 24 months. JSLHR. 2008;51:394-407.
11. Johnson C, Beitchman JH, Young A, et al. Fourteen-year follow-up of children with and without speech/language impairments: Speech/language stability and outcomes. J Speech Lang Hear Res. 1999;42:744-60.
12. Tomblin JB, Zhang X. The dimensionality of language ability in school-aged children. J Speech Lang Hear Res. 2006;49:1193-208.
13. Rice ML, Hoffman L, Wexler K. "Judgments of omitted BE and DO in questions as extended finiteness clinical markers of SLI to fifteen years. ," Journal of Speech, Language, and Hearing Research, in press.
14. Bishop DVM. Motor Immaturity and Specific Speech and Language Impairment: Evidence for a common genetic basis,. Am J Med Genet. 2002;114:56-63.
15. DeThorne L, Hart S, Petrill S, et al. Children's History of Speech-Language Difficulties: Genetic Influences and Associations with Reading-Related Measures. J Speech Lang Hear Res. 2006;49:1280-93.
16. Bishop DVM, Hayiou-Thomas ME. Heritability of specific language impairment depends on diagnostic criteria. Genes Brain Behav. 2008;7:365-72.
17. Rice ML, Haney KR, Wexler K. Family histories of children with SLI who show extended optional infinitives. J Speech Lang Hear Res. 1998;41:419-32.
18. Tallal P, Hirsch LS, Raelpe-Bonilla T, et al. Familial aggregation in specific language impairment. J Speech Lang Hear Res. 2001;44:1172-82.
19. Tomblin JB. Familial concentration of developmental language impairment,. Journal of Speech and Hearing Disorders. 1989;54:287-95.
20. Lai CSL, Fisher SE, Hurst JA, et al. A forkhead-domain gene is mutated in a severe speech and language disorder,. Nature. 2001;413:519-23.
21. O'Brien EK, Zhang X, Nishimura C, et al. Association of specific language impairment (SLI) to the region of 7q31,. Am J Hum Genet. 2003;72:1536-43.
22. Alarcón M, Abrahams BS, Stone JL. Linkage, association, and gene-expression analyses identify CNTNAP2 as an autismsusceptibility gene. Am J Hum Genet. 2008;82:150-9.
23. Semel E, Wiig E, Secord W. Clinical evaluation of language fundamentals, 3rd edition., 3rd ed. San Antonio, TX: Psychological Corporation, 1995
24. Tager-Flusberg H, Cooper J. Present and future possibilities for defining a phenotype for specific language impairment. J Speech Lang Hear Res. 1999;42:1275-8.
25. Bishop DVM, Adams CV, Norbury CF. Distinct genetic influences on grammar and phonological short-termmemory deficits: evidence from 6-year-old twins. Genes Brain Behav. 2006;5:158-69.
26. Rice ML, Wexler K. Rice/Wexler Test of Early Grammatical Impairment. San Antonio: The Psychological Corporation; 2001.
27. Marchman VA, Wulfeck B, Ellis Weismer S. "Morphological productivity in children with normal language and SLI: A study of the English past tense," Journal of Speech, Language, and Hearing Research, pp. 206-219, 1999
28. Newbury DF, Bishop DVM, Monaco AP. Genetic influences on language impairment and phonological short-term memory,. Trends Cogn Sci. 2005;9:528-34.
29. Conti-Ramsden G, Botting N, Faragher B. Psycholinguistic markers for specific language impairment (SLI). J Child Psychol Psychiatry. 2001;42:741-8.
30. Gathercole SE, Willis CS, Baddeley AD, et al. The children's test of nonword repetition: a test of phonological working memory. Memory. 1994;2:103-27.
31. Bishop DVM. "Beyond words: Phonological short-term memory and syntactic impairment in specific language impairment.," Applied Psycholinguistics, pp. 545-547, 2006.
32. MacDermot KD, Bonora E, Sykes N, et al. Identification of FOXP2 truncation as a novel cause of developmental speech and language deficits,. Am J Hum Genet. 2005;76:1074-80.
33. Stromswold K. The genetics of speech and language impairments,. N Eng J Med. 2008;359:2381-3.
34. Shriberg LD, Tomblin JB, McSweeny JL. "Prevalence of speech delay in 6-year-old children and comorbidity with language impairment," Journal of Speech, Language, and Hearing Research, vol. 42, 1999
35. Stein CM, Schick J, Taylor H, et al. Pleiotropic effects of a chromosome 3 locus on speech-sound disorder and reading. Am J Hum Genet. 2004;74:283-97.
36. Smith SD, Pennington BF, Boada R, et al. Linkage of speech sound disorder to reading disability loci. J Child Psychol Psychiatry. 2005;46:1057-66.
37. Stein CM, Millard C, Kluge A, et al. Speech Sound Disorder Influenced by a Locus in 15q14 Region. Behav Genet. 2006;36:858-68.
38. Miscimarra L, Stein CM, Millard C, et al. Further evidence of pleiotropy influencing speech and language: Analysis of the DYX8 region. Hum Hered. 2007;63:47-58.
39. Catts HW. Language impairment and reading disability. In: Kent R, editor. The MIT Encyclopedia of Communication Disorders. Cambridge: Bradford Books; 2004.
40. Hoover WA, Gough PB. The simple view of reading. Read Writ. 1990;2:127-60.
41. Catts HW, Adlof SM, Ellis Weismer S. Language deficits in poor comprehenders: A case for the simple view of reading. J Speech Lang Hear Res. 2006;49:278-93.
42. Bartlett CW, Flax JF, Logue M, et al. A major susceptibility locus for specific language impairment is located on 13q21,. Am J Hum Genet. 2002;71:45-55.
43. Bartlett CW, Flax JF, Logue MW, et al. 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. 2004;57:10-20.
44. Wijsman E, Peterson D, Leuteneggar A, et al. Segregation analysis of phenotypic components of learning disabilities. I. Nonword memory and digit span. Am J Hum Genet. 2000;67:631-46.
45. Chapman N, Raskind W, Thomson J, et al. Segregation analysis of phenotypic components of learning disabilities. II. Phonological decoding. Am J Med Genet. 2003;121:60-70.
46. Williams J, O'Donovan M. The genetics of developmental dyslexia,. Eur J Hum Genet. 2006;14:681-9.
47. Schumacher J, Hoffmann P, Schmal C, et al. Genetics of Dyslexia: The evolving landscape,. J Med Genet. 2007;44:289-97.
48. Smith SD, Kimberling WJ, Pennington B. Screening for multiple genes influencing dyslexia,. Reading and Writing: An Interdisciplinary Journal. 1991;3:285-98.
49. Cardon LR, Smith SD, Fulker DW, et al. Quantitative train locus for reading disability on chromosome 6,. Science. 1994;266:276-9.
50. Gayán J, Smith SD, Cherny SS, et al. Quantitative trait locus for specific language and reading deficits on Chromosome 6p. Am J Hum Genet. 1999;64:157-64.
51. Fisher S, Marlow A, Lamb J, et al. "A quantitative-trait locus on chromosome 6p influences different aspects of developmental dyslexia.," Am J Hum Genet, vol. 64, 1999.
52. Deffenbacher K, Kenyon J, Hoover D, et al. Refinement of the 6p21.3 quantitative trait locus influencing dyslexia: linkage and association analyses. Hum Genet. 2004;115:128-38.
53. Fagerheim T, Raeymaekers P, Tonnessen FE, et al. A new gene (DYX3) for dyslexia is located on chromosome 2,. J Med Genet. 1999;36:664-9.
54. Nopola-Hemmi J, Myllyluoma B, Haltia T, et al. A dominant gene for developmental dyslexia on chromosome 3. J Med Genet. 2001;38:658-64.
55. Rabin M, Wen XL, Hepburn M, et al. Suggestive linkage of developmental dyslexia to chromosome 1p34-p36. Lancet. 1993;342:178.
56. Grigorenko EL,Wood FB,Meyer MS, et al. Linkage studies suggest a possible locus for developmental dyslexia on chromosome 1p. Am J Hum Genet. 2001;105:120-9.
57. de Koval CGF, Franke B, Hol FA, et al. confirmation of dyslexia susceptibility loci on chromosomes 1p and 2p, but not 6p in a Dutch sib-pair collection. American Journal of Medical Genetics. Part B Neuropsychiatry Genetics. 2008;147:294-300.
58. Anthoni H, Zucchelli M, Matsson H, et al. A locus on 2p12 containing the co-regulated MRPL19 and C2ORF3 genes is associated to dyslexia. Hum Mol Genet. 2007;16:667-77.
59. Hannula-Jouppi K, Kaminen-Ahola N, Taipale M, et al. The axon guidance receptor gene ROBO1 is a candidate gene for developmental dyslexic. PLoS Genet. 2005;1:50.
60. Cope N, Harold D, Hill G, et al. Strong evidence that KIAA0319 on chromosome 6p is a susceptibility gene for developmental dyslexia. Am J Hum Genet. 2005;76:581-91.
61. Paracchini S, Thomas A, Castro S, et al. The chromosome 6p22 haplotype associated with dyslexia reduces the expression of KIAA0319, a novel gene involved in neuronal migration. Hum Mol Genet. 2006;15:1659-66.
62. Meng H, Smith SD, Hager K, et al. DCDC2 is associated with reading disability and modulates neuronal development in the brain. Proc Natl Acad Sci U S A. 2005;102:17053-8.
63. Schumacher J, Anthoni H, Dahdouh F, et al. Strong genetic evidence of DCDC2 as a susceptibility gene for dyslexia. Am J Hum Genet. 2006;78:52-62.
64. Taipale M, Kaminen N, Nopola-Hemmi J, et al. A candidate gene for developmental dyslexia encodes a nuclear tetratricopeptide repeat domain protein dynamically regulated in brain. Proc Natl Acad Sci U S A. 2003;100:11553-8.
65. Wang Y, Paramasivam M, Thomas A, et al. DYX1C1 functions in neuronal migration in developing neocortex. Neuroscience. 2006;143:515-22.
66. Galaburda AM, Loturco J, Ramus F, et al. From genes to behavior in developmental dyslexia. Nat Neurosci. 2006;9:1213-7.
67. Pennington BF. From single to multiple deficit models of developmental disorders. Cognition. 2006;101:385-413.
68. Kovas Y, Plomin R. Generalist genes: Implications for the cognitive sciences. Trends Cogn. Sci. 2006;10:198-203.
69. Rice ML, Wexler K, Hershberger S. Tense over time: The longitudinal course of tense acquisition in children with specific language impairment. J Speech Lang Hear Res. 1998;41: 1412-31.
70. Rice ML, Wexler K, Redmond SM. Grammaticality judgments of an extended optional infinitive grammar: Evidence from English-speaking children with specific language impairment. J Speech Lang Hear Res. 1999;42:943-61.
71. Rice ML, Wexler K, Marquis J, et al. Acquisition of irregular past tense by children with specific language impairment. J Speech Lang Hear Res. 2000;43:1126-45.
72. Rice ML, Redmond SM, Hoffman L. "MLU in children with SLI and young control children shows concurrent validity, stable and parallel growth trajectories," Journal of Speech, Language, and Hearing Research, pp. 793-808, 2006.
73. Burgemeister BB, Blum LH, Lorge I. The Columbia Mental Maturity Scale. San Antonio: The Psychological Corporation; 1972.
74. Wechsler D. Wechsler Intelligence Scale for Children-Third edition. San Antonio, TX: The Psychological Corporation., 1991.
75. Wechsler D. Wechsler Adult Intelligence Scale-Third edition. San Antonio, TX: The Psychological Corporation., 1997.
76. Goldman R, Fristoe M. Goldman Fristoe Test of Articulation-2 (2 ed.). Circle Pines: American Guidance Service; 2000.
77. Zimmerman IL, Steiner VG, Pond RE. Preschool Language Scale-3. San Antonio, Texas.: The Psychological Corporation, 1992.
78. Hresko WR, Kim Reid D, Hammill DD. Test of Early Language Development (TELD-3). Austin: Pro-Ed; 1999.
79. Newcomer PL, Hammill DD. Test of Language Development-Primary. 3rd Edition. Austin, TX: Pro-Ed., 1999.
80. Semel E, Wiig E, Secord W. Clinical Evaluation of Language Fundamentals (3rd ed.). San Antonio,TX: The Psychological Corporation., 1995.
81. Dunn A, Dunn A. Peabody Picture Vocabulary Test-Revised. Circle Pines: American Guidance Service; 1981.
82. Dunn LM, Dunn LM, Williams KT. Peabody Picture Vocabulary Test III. Circle Pines, MN: American Guidance Service., 1997.
83. Leadholm B, Miller J. Language sample analysis: The Wisconsin guide. Milwaukee: Wisconsin Department of Public Instruction; 1992.
84. Bishop DVM, Adams CV, Norbury CF. Distinct genetic influences on grammar and phonological short-term memory deficits: Evidence from 6-year-old twins. Genes, Brain, and Behavior. 2005;5:158-69.
85. Woodcock R. Woodcock Reading Mastery Tests-Revised. Circle Pines, MN: American Guidance Service., 1998.
86. Wiederholt JL, Bryant BR. Gray Oral Reading Tests-Third Edition. Austin, TX: Pro-Ed., 1992.
87. Wagner R, Rashotte C, Torgesen J. Comprehensive Test of Phonological Processing. Austin: Pro-Ed; 1999.
88. Evans DM, Cardon LR. "Guidelines for genotyping in genomewide linkage studies: Single-nucleotide-polymorphism maps versus microsatellite maps.," Am. J Hum Genet. 2004;75:687-92.
89. Matise TC CF, Chen W, De La Vega FM, Hansen M, He C, Hyland FC, et al. A second-generation combined linkage physical map of the human genome. Genome Res. 2007;17:1783-6.
90. Young A. "Genetic Analysis System," "Genetic Analysis System" http://users.ox.ac.uk/~ayoung/gas.html, 1995.
91. Abecasis G, Cherny S, Cookson W, et al. Merlin-rapid analysis of dense genetic maps using sparse gene flow trees,. Nat Genet. 2002;30:97-101.
92. Abecasis GR, SS C, WO C, et al. Merlin-rapid analysis of dense genetic maps using sparse gene flow trees. Nat Genet. 2002;30:97-101.
93. Lessem JM, Cherny SS. DeFries-Fulker multiple regression of Sibship QTR data: a SAS macro,. Bioinformatics. 2001;17:371-2.
94. Abecasis G, Cardon LR, Cookson WO. A general test of association for quantitative traits in nuclear families. Am J Hum Genet. 2000;66:279-292.
95. Laird NM, Horvath S, Xu X. Implementing a unified approach to family-based tests of association. Genet Epidemiol. 2000;19: S36-42.
96. Nopola-Hemmi J. Myllyluoma, et al., "A dominant gene for developmental dyslexia on chromosome 3,". J Med Genet. 2001;38:658-64.
97. Stein CM, Schick JH, Taylor HG, et al. Pleiotropic effects of a chromosome 3 locus on speech-sound disorder and reading. Am J Hum Genet. 2004;74:283-97.
98. Pennington BF. Using genetics to dissect cognition,. Am J Hum Genet. 1997;60:13-6.
99. Stein CM, Millard C, Kluge A, et al. "Speech sound disorder influenced by locus in 15q14 region.," Behavioral Genetics, vol. 36, 2006.
100. Smith SD, Pennington BF, Boada R, et al. Linkage of speech and sound disorder to reading disability loci,. J Child Psychol Psychiatry. 2005;46:1057-66.
101. Francks C, Paracchini S, Smith S, et al. A 77-kilobase region of chromosome 6p22.2 is associated with dyslexia in families from the United Kingdom and the United States. Am J Hum Genet. 2004;75:1046-58.
102. Cope N, Harold D, Hil G, et al. Strong evidence that KIAA0319 on chromosome 6p is a suceptibility gene for developmental dyslexia. Am J Hum Genet. 2005;76:581-91.
103. Harold D, Paracchini S, Scerri T, et al. Further evidence that the KIAA0319 gene confers susceptibility to developmental dyslexia. Mol Psychiatry. 2006;11:1085-91. 1061.
104. Luciano M, Lind P, Duffy D, et al. A haplotype spanning KIAA0319 and TTRAP is associated with normal variation in reading and spelling ability. Biol Psychiatry. 2007;62:811-7.
105. Hoover WaGP. The simple view of reading. Read Writ. 1990;2:127-60.
106. Catts HW, Adlof SM, Weismer SE. Language deficits in poor comprehenders: A case for the simple view of reading. J Speech Lang Hear Res. 2006;49:278-93.