Molecular genetic approaches to the study of language

Human Biology

Volumn 70, Issue 2, 1998, Pages 325-345

  Brzustowicz, Linda M ^a  

^a RUTGERS UNIVERSITY   (United States)

Author keywords

Behavioral genetics; Complex disorders; Linkage analysis; Quantitative traits; Specific language impairment

Indexed keywords

CLONING; LANGUAGE; MOLECULAR GENETICS;

EID: 0032055313     PISSN: 00187143     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (126)

1. Amos, C.I., A.F. Wilson, P.A. Rosenbaum et al. 1986. An approach to the multivariate analysis of high-density-lipoprotein cholesterol in a large kindred: The Bogalusa Heart Study. Genet. Epidemiol. 3:255-267.
2. Antonarakis, S. 1994. Genomic linkage scanning: Systematic or intelligent? Nat. Genet. 8:211-212.
3. Arnold, G.E. 1961. The genetic background of developmental language disorders. Folia Phoniatr. 13:246-254.
4. Ashley, C.T., K.D. Wilkinson, D. Reines et al. 1993. FMR1 protein: Conserved RNP family domains and selective RNA binding. Science 262:563-566.
5. Babron, M.C., M. Martinez, C. Bonaiti-Pellie et al. 1993. Linkage detection by the affected-pedigree-member method: What is really tested? Genet. Epidemiol. 10:389-394.
6. Baron, M. 1990. Genetic linkage in mental illness. Nature 346:618.
7. Bellugi, U., S. Marks, A. Bihrle et al. 1993. Dissociation between language and cognitive functions in Williams syndrome. In Language Development in Exceptional Circumstances, D. Bishop and K. Mogford, eds. Hove, England: Erlbaum Associates, 177-189.
8. Bisgaard, M.L., H. Eiberg, N. Moller et al. 1987. Dyslexia and chromosome 15 heteromorphism: Negative lod score in a Danish material. Clin. Genet. 32:118-119.
9. Bishop, D.V.M., and A. Edmundson. 1986. Is otitis media a major cause of specific developmental language disorders? Br. J. Disorders Commun. 21:321-338.
10. Bishop, D.V.M., T. North, and C. Dolan. 1995. Genetic basis of specific language impairment: Evidence from a twin study. Dev. Med. Child Neurol. 37:56-71.
11. Bishop, D.V.M., T. North, and C. Dolan. 1996. Nonword repetition as a behavioral marker for inherited language impairment: Evidence from a twin study. J. Child Psychol. Psychiatr. 4:391-403.
12. Blangero, J. 1995. Genetic analysis of a common oligogenic trait with quantitative correlates: Summary of GAW9 results. Genet. Epidemiol. 12:684-706.
13. Boehnke, M. 1994. Limits of resolution of genetic linkage studies: Implications for the positional cloning of human disease genes. Am. J. Hum. Genet. 55:379-390.
14. Borges-Osorio, M.R., and F.M. Salzano. 1985. Language disabilities in 3 twin pairs and their relatives. Acta Genet. Med. Gemellol. 34:95-100.
15. Botstein, D., R.L. White, M. Skolnick et al. 1980. Construction of a genetic linkage map in man using restriction fragment length polymorphisms. Am. J. Hum. Genet. 32:314-331.
16. Brown, D.L., M.B. Gorin, and D.E. Weeks. 1994. Efficient strategies for genomic searching using the affected-pedigree-member method of linkage analysis. Am. J. Hum. Genet. 54:544-552.
17. Brzustowicz, L.M. 1996. Looking for language genes: Lessons from complex disorder studies. In Towards a Genetics of Language, M. Rice, ed. Mahwah, NJ: Erlbaum Associates, 3-25.
18. Byrne, B., L. Willerman, and L. Ashmore. 1974. Severe and moderate language impairment: Evidence for distinctive etiologies. Behav. Genet. 4:331-345.
19. Cardon, L.R., S.D. Smith, D.W. Fulker et al. 1994. Quantitative trait locus for reading disability on chromosome 6. Science 266:276-279.
20. Chakrabarti, L., S.J.L. Knight, A.V. Flannery et al. 1996. A candidate gene for mild mental handicap at the FRAXE fragile site. Hum. Molec. Genet. 5:275-282.
21. Chen, W.J., S.V. Faraone, and M.T. Tsuang. 1992. Linkage studies of schizophrenia: A simulation study of statistical power. Genet. Epidemiol. 9:123-139.
22. Cohen, I.L. 1995. A theoretical analysis of the role of hyperarousal in the learning and behavior of fragile X males. Ment. Retard. Dev. Disabil. Res. Rev. 1:286-291.
23. Cohen, I.L., D.S. Fisch, E.G. Wolf-Schein et al. 1988. Social avoidance and repetitive behavior in fragile X males: A controlled study. Am. J. Ment. Retard. 92:436-446.
24. Craig, J.M., and W.A. Bickmore. 1994. The distribution of CpG islands in mammalian chromosomes. Nat. Genet. 7:376-382.
25. Curran, M.E., D.L. Atkinson, A.K. Ewart et al. 1993. The elastin gene is disrupted by a translocation associated with supravalvular aortic stenosis. Cell 73:159-168.
26. Curtis, D., and P. Sham. 1995. Model-free linkage analysis using likelihoods. Am. J. Hum. Genet. 57:703-716.
27. Davies, J.L., Y. Kawaguchi, S.T. Bennett et al. 1994. A genome-wide search for human type 1 diabetes susceptibility genes. Nature 371:130-136.
28. DeFries, J.C., D.W. Fulker, and M.C. LaBuda. 1987. Evidence for a genetic etiology in reading disability of twins. Nature 329:537-539.
29. DeFries, J.C., R.K. Olsen, B.F. Pennington et al. 1991. Colorado reading project: Past, present, and future. Learn. Disabil. Multidisc. J. 2:37-46.
30. DeFries, J.C., S.M. Singer, T.T. Foch et al. 1978. Familial nature of reading disability. Br. J. Psychiatr. 132:361-367.
31. Dib, C., S. Faure, C. Fizames et al. 1996. A comprehensive genetic map of the human genome based on 5264 microsatellites. Nature 380:152-154.
32. Durner, M., and D.A. Greenberg. 1992. Effect of heterogeneity and assumed mode of inheritance on lod scores. Am. J. Med. Genet. 42:271-275.
33. Durner, M., D.A. Greenberg, and S.E. Hodge. 1992. Inter-and intrafamilial heterogeneity: Effective sampling strategies and comparison of analysis methods. Am. J. Hum. Genet. 51:859-870.
34. Dykens, E.M., R.M. Hodapp, and J.F. Leckman. 1987. Strengths and weaknesses in the intellectual functioning of males with fragile X syndrome. Med. Genet. 28:13-15.
35. Fain, P.R., W.J. Kimberling, P.S. Ing et al. 1985. Linkage analysis of reading disability with chromosome 15. Cytogenet. Cell Genet. 40:625.
36. Ferrier, L.J., A.S. Bashir, D.L. Meryash 1991. Conversational skills of individuals with fragile X syndrome: A comparison with autism and Down syndrome. Dev. Med. Child Neurol. 33:776-788.
37. Fitch, R.H., P. Tallal, C.P. Brown et al. 1994. Induced microgyria and auditory temporal processing in rats: A model for language impairment? Cereb. Cortex 4:260-270.
38. Frangiskakis, J.M., A.K. Ewart, C.A. Morris et al. 1996. LIM-kinase 1 hemizygosity implicated in impaired visuospatial constructive cognition. Cell 88:59-69.
39. Freedman, R., H. Coon, M. Myles-Worsley et al. 1997. Linkage of a neurophysiological deficit in schizophrenia to a chromosome 15 locus. Proc. Natl. Acad. Sci. USA 94:587-592.
40. Futreal, P.A., Q. Liu, D. Shattuck-Eidens et al. 1994. BRCA1 mutations in primary breast and ovarian carcinomas. Science 266:120-122.
41. Galaburda, A.M. 1993. Neuroanatomical basis of developmental dyslexia. Behav. Neurol. 11:161-173.
42. Gecz, J., A.K. Gedeon, G.R. Sutherland et al. 1996. Identification of the gene FMR2 associated with FRAXE mental retardation. Nat. Genet. 13:105-108.
43. Gedeon, A.K., M. Meinanen, L.C. Ades et al. 1995. Overlapping submicroscopic deletions in Xq28 in two unrelated boys with developmental disorders: Identification of a gene near FRAXE. Am. J. Hum. Genet. 56:907-914.
44. Gilger, J.W., B.F. Pennington, and J.C. DeFries. 1991. Risk for reading disabilities as a function of parental history of learning problems: Data from three samples of families demonstrating genetic transmission. Read. Writ. 3:205-217.
45. Goldgar, D.E., and R.S. Oniki 1992. Comparison of a multipoint identity-by-descent method with parametric multipoint linkage analysis for mapping quantitative traits. Am. J. Hum. Genet. 50:598-606.
46. Goldin, L.R., R.C. Elston, J.B. Graham et al. 1980. Genetic analysis of von Willebrand's disease in two large pedigrees: A multivariate approach. Am. J. Med. Genet. 6:279-293.
47. Gopnik, M., and M. Crago. 1991. Familial aggregation of a developmental language disorder. Cognition 39:1-50.
48. Greenberg, D.A., and S.E. Hodge. 1989. Linkage analysis under "random" and "genetic" reduced penetrance. Genet. Epidemiol. 6:259-264.
49. Greenberg, D.A., S.E. Hodge, V.J. Vieland et al. 1996. Affecteds-only linkage methods are not a panacea. Am. J. Hum. Genet. 58:892-895.
50. Gressens, P., S. Marret, and P. Evrard. 1996. Developmental spectrum of the excitotoxic cascade induced by ibotenate: A model of hypoxic insults in fetuses and neonates. Neuropathol. Appl. Neurobiol. 22:498-502.
51. Gressens, P., S. Marret, J.M. Hill et al. 1997. Vasoactive intestinal peptide prevents excitotoxic cell death in the murine developing brain. J. Clin. Inv. 100:390-397.
52. Grigorenko, E.L., F.B. Wood, M.S. Meyer. 1997. Susceptibility loci for distinct components of developmental dyslexia on chromosomes 6 and 15. Am. J. Hum. Genet. 60:27-39.
53. Gu, Y., Y. Shen, R.A. Gibbs et al. 1996. Identification of FMR2, a novel gene associated with the FRAXE CCG repeat and CpG island. Nat. Genet. 13:109-113.
54. Hagerman, R.J. 1996. Physical and behavioral features. In Fragile-X Syndrome: Diagnosis, Treatment, and Research, R.J. Hagerman and A.C. Cronister, eds. Baltimore, MD: Johns Hopkins University Press, 3-87.
55. Hall, J.M., C.A. LeDuc, A.R. Watson et al. 1996. An approach to high-throughput genotyping. Genome Res. 6:781-790.
56. Hallgren, B. 1950. Specific dyslexia ("congenital word-blindness"): A clinical and genetic study. Acta Psychiatr. Neurol. Scand. 65(suppl.):1-287.
57. Haseman, J.K., and R.C. Elston. 1972. The investigation of linkage between a quantitative trait and a marker locus. Behav. Genet. 2:3-19.
58. Hier, E., and P. Rosenberger. 1980. Focal left temporal lobe lesions and delayed speech acquisition. Dev. Behav. Pediatr. 1:54-57.
59. Honer, W.G., A.S. Bassett, E. Squires-Wheeler et al. 1995. The temporal lobes, reversed asymmetry, and the genetics of schizophrenia. Neuroreport 7:221-224.
60. Hurst, J.A., M. Baraitser, E. Auger et al. 1990. An extended family with a dominantly inherited speech disorder. Dev. Med. Child Neurol. 32:352-355.
61. Ingram, T.T.S. 1959. Specific developmental disorders of speech in childhood. Brain 82:450-454.
62. Karmiloff-Smith, A., J. Grant, I. Berthoud et al. 1997. Language and Williams syndrome: How intact is "intact"? Child Dev. 68:246-262.
63. Khoury, M.J. 1994. Case-parental control methods in the search for disease-susceptibility genes. Am. J. Hum. Genet. 55:414-415.
64. Knapp, M., S.A. Seuchter, and M.P. Baur. 1994. Linkage analysis in nuclear families. II. Relationship between affected sib-pair tests and lod score analysis. Hum. Hered. 44:44-51.
65. Kruglyak, L., and E.S. Lander. 1995. Complete multipoint sib-pair analysis of qualitative and quantitative traits. Am. J. Hum. Genet. 57:439-454.
66. Kruglyak, L., M.J. Daly, M.P. Reeve-Daly et al. 1996. Parametric and nonparametric linkage analysis: A unified multipoint approach. Am. J. Hum. Genet. 58:1347-1368.
67. Lahey, M., and J. Edwards. 1995. Specific language impairment: Preliminary investigation of factors associated with family history and with patterns of language and performance. J. Speech Hear. Res. 38:1086-1094.
68. Lander, E., and L. Kruglyak. 1995. Genetic dissection of complex traits: Guidelines for interpreting and reporting linkage results. Nat. Genet. 11:241-247.
69. Lathrop, G.M., J.M. Lalouel, C. Julier et al. 1984. Strategies for multilocus linkage analysis in humans. Proc. Natl. Acad. Sci. USA 81:3443-3446.
70. Lewis, B.A. 1990. Familial phonological disorders: Four pedigrees. J. Speech Hear. Disord. 55:160-170.
71. Lewis, B.A. 1992. Pedigree analysis of children with phonology disorders. J. Learn. Disabil. 25:586-597.
72. Lewis, B.A., and L.A. Thompson. 1992. A study of developmental speech and language disorders in twins. J. Speech Hear. Res. 35:1086-1094.
73. Lewis, B.A., N.J. Cox, and P.J. Byard. 1993. Segregation analysis of speech and language disorders. Behav. Genet. 23:291-297.
74. Lewitter, F.I., J.C. DeFries, and R.C. Elston. 1980. Genetic models of reading disability. Behav. Genet. 10:9-30.
75. Livingstone, M.S., G.D. Rosen, F.W. Drislane et al. 1991. Physiological and anatomical evidence for a magnocellular defect in developmental dyslexia. Proc. Natl. Acad. Sci. USA 88:7943-7947.
76. Lovegrove, W.J., R.P. Garzia, and S.B. Nicholson. 1990. Experimental evidence for a transient system deficit in specific reading disability. J. Am. Optom. Assoc. 61:137-146.
77. Luchsinger, R. 1970. Inheritance of speech deficits. Folia Phoniatr. 22:216-230.
78. MacLean, C.J., L.M. Ploughman, S.R. Diehl et al. 1992. A new test for linkage in the presence of locus heterogeneity. Am. J. Hum. Genet. 50:1259-1266.
79. Marret, S., R. Mukendi, J.F. Gadisseux et al. 1995. Effect of ibotenate on brain development: An excitotoxic mouse model of microgyria and posthypoxic-like lesions. J. Neuropathol. Exp. Neurol. 54:358-370.
80. Martinez, M., and L.R. Goldin. 1991. Detection of linkage for heterogeneous disorders by using multiple linkage analysis. Am. J. Hum. Genet. 49:1300-1305.
81. McCready, E.B. 1926. Defects in the zone of language (word deafness and word blindness) and their influence in education and behavior. Am. J. Psychiatr. 6:267.
82. McKusick, V.A. 1955. The cardiovascular aspects of Marfan's syndrome. Circulation 11:321-342.
83. Merzenich, M.M., C. Schreiner, W. Jenkins et al. 1993. Neural mechanisms underlying temporal integration, segmentation, and input sequence representation: Some implications for the origin of learning disabilities. Ann. NY Acad. Sci. 682:1-22.
84. Miller, J.F. 1996. The search for the phenotype of disordered language performance. In Towards a Genetics of Language, M. Rice, ed. Mahwah, NJ: Erlbaum Associates, 297-314.
85. Murray, J.C., K.H. Buetow, J.L. Weber et al. 1994. Comprehensive human linkage map with centimorgan density. Science 265:2049-2054.
86. Neils, J., and D. Aram. 1986. Family history of children with developmental language disorders. Percept. Motor Skills 63:655-658.
87. Nurnberger, J.I., L.R. Goldin, and E.S. Gershon. 1994. Genetics of psychiatric disorders. In The Medical Basis of Psychiatry, 2d ed., G. Winokur and P.J. Clayton, eds. Philadelphia, PA: W.B. Saunders, 459-492.
88. Olson, R.K., J.J. Gillis, J.P. Rack et al. 1991. Confirmatory factor analysis of word recognition and process measures in the Colorado reading project. Read. Writ. 3:235-248.
89. Olson, T.M., V.V. Michels, Z. Urban et al. 1995. A 30-kb deletion within the elastin gene results in familial supravalvular aortic stenosis. Hum. Molec. Genet. 4:1677-1679.
90. Ott, J. 1990. Cutting the Gordian knot in the linkage analysis of complex human traits. Am. J. Hum. Genet. 46:219-221.
91. Ott, J. 1991. Analysis of Human Genetic Linkage. Baltimore, MD: Johns Hopkins University Press.
92. Pennington, B.F., and J.W. Gilger. 1996. How is dyslexia transmitted? In Developmental Dyslexia: Neural, Cognitive, and Genetic Mechanisms, C.H. Chase, G.D. Rosen, and G.F. Sherman, eds. Baltimore, MD: York Press, 41-61.
93. Pennington, B.F., J. Gilger, D. Pauls et al. 1991. Evidence for major gene transmission of developmental dyslexia. J. Am. Med. Assoc. 266:1527-1534.
94. Peoples, R., L. Perez-Jurado, Y.-K. Wang et al. 1996. The gene for replication factor C subunit 2 (RFC2) is within the 7q11.23 Williams syndrome deletion. Am. J. Hum. Genet. 58:1370-1373.
95. Pyeritz, R.E. 1993. The Marfan syndrome. In Connective Tissue and Its Heritable Disorders: Molecular, Genetic, and Medical Aspects, P.M. Royce and B. Steinmann, eds. New York: Wiley-Liss, 437-468.
96. Rabin, M., X.L. Wen, M. Hepburn et al. 1993. Suggestive linkage of developmental dyslexia to chromosome 1p34-p36. Lancet 342:178.
97. Rapin, I. 1996. Practitioner review: Developmental language disorders - A clinical update. J. Child Psychol. Psychiatr. 37:643-655.
98. Risch, N., and L. Giuffra. 1992. Model misspecification and multipoint linkage analysis. Hum. Hered. 42:77-92.
99. Robinson, R.J. 1987. The causes of language disorder. In Proceedings of the 1st International Symposium on Specific Speech and Language Disorders in Children. London, England: Association for All Speech Impaired Children, 1-19.
100. Rosen, G.D., G.F. Sherman, and A.M. Galaburda. 1994. Radial glia in the neocortex of adult rats: Effects of neonatal brain injury. Brain Res. Devel. Brain Res. 82:127-135.
101. Rosen, G.D., E.A. Sigel, G.F. Sherman et al. 1995. The neuroprotective effects of MK-801 on the induction of microgyria by freezing injury to the newborn rat neocortex. Neuroscience 69:107-114.
102. Rutter, M., E. Simonoff, and J. Silberg. 1993. How informative are twin studies of child psychopathology? In Twins as Tools of Behavioral Genetics, T.J. Bouchard and P. Propping, eds. Chichester, England: Wiley, 179-194.
103. Samples, J.M., and V.W. Lane. 1985. Genetic possibilities in six siblings with specific language learning disorders. ASHA (Am. Speech Hear. Assoc.) 27:27-32.
104. Schork, N.J., M. Boehnke, J.D. Terwilliger et al. 1993. Two trait locus linkage analysis: A powerful strategy for mapping complex genetic traits. Am. J. Hum. Genet. 53:1127-1136.
105. Skuse, D.H., R.S. James, D.V. Bishop et al. 1997. Evidence from Turner's syndrome of an imprinted X-linked locus affecting cognitive function. Nature 387:705-708.
106. Smith, S.D., W.J. Kimberling, B.F. Pennington et al. 1983. Specific reading disability: Identification of an inherited form through linkage analysis. Science 219:1345-1347.
107. Spence, M.A., D.T. Bishop, M. Boehnke et al. 1993. Methodological issues in linkage analyses for psychiatric disorders: Secular trends, assortative mating, bilineal pedigrees - Report of the MacArthur Foundation Network I Task Force on Methodological Issues. Hum. Hered. 43:166-172.
108. Spitz, R.V., P. Tallal, J. Flax et al. 1997. Look who's talking: A prospective study of familial transmission of language impairments. J. Speech Hear. Res. 40:990-1001.
109. Sudhalter, V., M. Maranion, and P. Brooks. 1992. Expressive semantic deficit in the productive language of males with fragile X syndrome. Am. J. Med. Genet 43:65-71.
110. Sudhalter, V., H.S. Scarborough, and I.L. Cohel. 1991. Syntactic delay and pragmatic deviance in the language of fragile X males. Am. J. Med. Genet. 38:493-497.
111. Sudhalter, V., I.L. Cohen, W.P. Silverman et al. 1990. Conversational analyses of males with fragile X, Down syndrome, and autism: A comparison of the emergence of deviant language. Am. J. Ment. Retard. 94:431-441.
112. Tallal, P., R. Ross, and S. Curtiss. 1989. Familial aggregation in specific language impairment. J. Speech Hear. Disord. 54:167-173.
113. Tallal, P., J. Townsend, and S. Curtiss. 1991. Phenotypic profiles of language impaired children based on genetic/family history. Brain Lang. 41:81-95.
114. Terwilliger, J.D., and J. Ott. 1994. Handbook of Human Genetic Linkage. Baltimore, MD: Johns Hopkins University Press.
115. Tomblin, J.B. 1989. Familial concentration of developmental language impairment. J. Speech Hear. Disord. 54:287-295.
116. van der Lely, H.K., and L. Stollwerck. 1996. A grammatical specific language impairment in children: An autosomal dominant inheritance? Brain Lang. 52:484-504.
117. Van Eerdewegh, P., C.L. Hampe, B.K. Suarez et al. 1993. Alzheimer's disease: A piscatorial trek. Genet. Epidemiol. 10:395-400.
118. Vargha-Khadem, F., K. Watkins, K. Alcock et al. 1995. Praxic and nonverbal cognitive deficits in a large family with a genetically transmitted speech and language disorder. Proc. Natl. Acad. Sci. USA 92:930-933.
119. Vieland, V.J., D.A. Greenberg, and S.E. Hodge. 1993. Adequacy of single-locus approximations for linkage analyses of oligogenic traits: Extension to multigenerational pedigree structures. Hum. Hered. 43:329-336.
120. Vieland, V., D.A. Greenberg, S.E. Hodge et al. 1992. Linkage analysis of two-locus diseases under single-locus and two-locus analysis models. Cytogenet. Cell Genet. 59:145-146.
121. Volterra, V., O. Capirci, G. Pezzini et al. 1996. Linguistic abilities in Italian children with Williams syndrome. Cortex 32:663-677.
122. Wacholder, S., D.T. Silverman, J.K. McLaughlin et al. 1992. Selection of controls in case-control studies. II. Types of controls. Am. J. Epidemiol. 135:1029-1041.
123. Weeks, D.E., and G.M. Lathrop. 1995. Polygenic disease: Methods for mapping complex disease traits. Tr. Genet. 11:513-519.
124. Weeks, D.E., L. Brzustowicz, E. Squires-Wheeler et al. 1990. Report of a workshop on genetic linkage studies in schizophrenia. Schizophr. Bull. 16:673-686.
125. Yu, S., M. Pritchard, E. Kremer et al. 1991. Fragile X genotype characterized by an unstable region of DNA. Science 252:1179-1181.
126. Zahalkova, M., V. Vrzal, and E. Kloboukova. 1972. Genetical investigations in dyslexia. J. Med. Genet. 9:48-52.