Association of specific language impairment (SLI) to the region of 7q31

American Journal of Human Genetics

Volumn 72, Issue 6, 2003, Pages 1536-1543

  O'Brien, Erin K ^a   Zhang, Xuyang ^a   Nishimura, Carla ^b   Tomblin, J Bruce ^a   Murray, Jeffrey C ^b,c  

^a UNIVERSITY OF IOWA   (United States)

^b UNIVERSITY OF IOWA   (United States)

^c 2182 Med Labs   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

TRANSMEMBRANE CONDUCTANCE REGULATOR;

ADOLESCENT; ARTICLE; AUTISM; CFTR GENE; CHILD; CHROMOSOME 7Q; CONTROLLED STUDY; EXON; FOXP2 GENE; GENE; GENE LOCUS; GENE MUTATION; GENETIC ANALYSIS; GENETIC ASSOCIATION; GENETIC LINKAGE; GENETIC MARKER; HEREDITY; HUMAN; INTELLIGENCE; LANGUAGE ABILITY; LANGUAGE DISABILITY; MAJOR CLINICAL STUDY; PRIORITY JOURNAL; SPEECH; TWINS;

EID: 0038692088     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/375403     Document Type: Article

References (56)

1. Abecasis GR, Cookson WO (2000) GOLD: graphical overview of linkage disequilibrium. Bioinformatics 16:182-183
2. Alarcon M, Cantor RM, Liu J, Gilliam TC, Geschwind DH, Autism Genetic Research Exchange Consortium (2002) Evidence for a language quantitative trait locus on chromosome 7q in multiplex autism families. Am J Hum Genet 70:60-71
3. Ashley-Koch A, Wolpert CM, Menold MM, Zaeem L, Basu S, Donnelly SL, Ravan SA, Powell CM, Qumsiyeh MB, Aylsworth AS, Vance JM, Gilbert JR, Wright HH, Abramson RK, DeLong GR, Cuccaro ML, Pericak-Vance MA (1999) Genetic studies of autistic disorder and chromosome 7. Genomics 61:227-236
4. Auranen M, Vanhala R, Varilo T, Ayers K, Kempas E, Ylisaukko-oja T, Sinsheimer JS, Peltonen L, Järvelä I (2002) A genomewide screen for autism-spectrum disorders: evidence for a major susceptibility locus on chromosome 3q25-27. Am J Hum Genet 71:777-790
5. Badner JA, Gershon ES (2002) Regional meta-analysis of published data supports linkage of autism with markers on chromosome 7. Mol Psychiatry 7:56-66
6. Bartlett CW, Flax JF, Logue MW, Vieland VJ, Bassett AS, Tallal P, Brzustowicz LM (2002) A major susceptibility locus for specific language impairment is located on 13q21. Am J Hum Genet 71:45-55
7. Bishop DV, North T, Donlan C (1995) Genetic basis of specific language impairment: evidence from a twin study. Dev Med Child Neurol 37:56-71
8. Boghosian-Sell L, Comings DE, Overhauser J (1996) Tourette syndrome in a pedigree with a 7;18 translocation: identification of a YAC spanning the translocation breakpoint at 18q22.3. Am J Hum Genet 59:999-1005
9. 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 105:539-547
10. Bruce HA, Margolis RL (2002) FOXP2: novel exons, splice variants, and CAG repeat length stability. Hum Genet 111: 136-144
11. Collaborative Linkage Study of Autism, Barrett S, Beck JC, Bernier R, Bisson E, Braun TA, Casavant TL, et al (1999) An autosomal genomic screen for autism. Am J Med Genet 88:609-615
12. Dale PS, Simonoff E, Bishop DV, Eley TC, Oliver B, Price TS, Purcell S, Stevenson J, Plomin R (1998) Genetic influence on language delay in two-year-old children. Nat Neurosci 1:324-328
13. Dunn L, Dunn L (1981) Peabody picture vocabulary test-revised. American Guidance Service, Circle Pines, MN
14. Fisher SE, Vargha-Khadem F, Watkins KE, Monaco AP, Pembrey ME (1998) Localisation of a gene implicated in a severe speech and language disorder. Nat Genet 18:168-170 (erratum 18:298)
15. Gasparini P, Dognini M, Bonizzato A, Pignatti PF, Morral N, Estivill X (1991) A tetranucleotide repeat polymorphism in the cystic fibrosis gene. Hum Genet 86:625
16. Hannula K, Lipsanen-Nyman M, Scherer SW, Holmberg C, Hoglund P, Kere J (2001) Maternal and paternal chromosomes 7 show differential methylation of many genes in lymphoblast DNA. Genomics 73:1-9
17. Hunt KW (1970) Syntactic maturity in schoolchildren and adults. University of Chicago Press for the Society for Research in Child Development, Chicago
18. International Molecular Genetic Study of Autism Consortium (1998) A full genome screen for autism with evidence for linkage to a region on chromosome 7q. Hum Mol Genet 7: 571-578
19. _ (2001a) Further characterization of the autism susceptibility locus AUTS1 on chromosome 7q. Hum Mol Genet 10:973-982
20. _ (2001b) A genomewide screen for autism: strong evidence for linkage to chromosomes 2q, 7q, and 16p. Am J Hum Genet 69:570-581
21. Kobayashi S, Kohda T, Miyoshi N, Kuroiwa Y, Aisaka K, Tsutsumi O, Kaneko-Ishino T, Ishino F (1997) Human PEG1/MEST, an imprinted gene on chromosome 7. Hum Mol Genet 6:781-786
22. Lahey M, Edwards J (1995) Specific language impairment: preliminary investigation of factors associated with family history and with patterns of language performance. J Speech Hear Res 38:643-657
23. Lai CS, Fisher SE, Hurst JA, Levy ER, Hodgson S, Fox M, Jeremiah S, Povey S, Jamison DC, Green ED, Vargha-Khadem F, Monaco AP (2000) The SPCH1 region on human 7q31: genomic characterization of the critical interval and localization of translocations associated with speech and language disorder. Am J Hum Genet 67:357-368
24. 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
25. Law J, Boyle J, Harris F, Harkness A, Nye C (2000) Prevalence and natural history of primary speech and language delay: findings from a systematic review of the literature. Int J Lang Commun Disord 35:165-188
26. Lewis BA, Thompson LA (1992) A study of developmental speech and language disorders in twins. J Speech Hear Res 35:1086-1094
27. Lord C, Rutter M, Le Couteur A (1994) Autism diagnostic interview-revised: a revised version of a diagnostic interview for caregivers of individuals with possible pervasive developmental disorders. J Autism Dev Disord 24:659-686
28. Meaburn E, Dale PS, Craig IW, Plomin R (2002) Language-impaired children: no sign of the FOXP2 mutation. Neuro Report 13:1075-1077
29. Mitchell AA, Cutler DJ, Chakravarti A (2003) Undetected genotyping errors cause apparent overtransmission of common alleles in the transmission/disequilibrium test. Am J Hum Genet 72:598-610
30. Murray JC, Buetow KH, Weber JL, Ludwigsen S, Scherpbier-Heddema T, Manion F, Quillen J, Sheffield VC, Sunden S, Duyk GM (1994) A comprehensive human linkage map with centimorgan density. Cooperative Human Linkage Center (CHLC). Science 265:2049-2054
31. Nakabayashi K, Bentley L, Hitchins MP, Mitsuya K, Meguro M, Minagawa S, Bamforth JS, Stanier P, Preece M, Weksberg R, Oshimura M, Moore GE, Scherer SW (2002) Identification and characterization of an imprinted antisense RNA (MESTIT1) in the human MEST locus on chromosome 7q32. Hum Mol Genet 11:1743-1756
32. Neils J, Aram DM (1986) Family history of children with developmental language disorders. Percept Mot Skills 63:655-658
33. Newbury DF, Bonora E, Lamb JA, Fisher SE, Lai CS, Baird G, Jannoun L, Slonims V, Stott CM, Merricks MJ, Bolton PF, Bailey AJ, Monaco AP, International Molecular Genetic Study of Autism Consortium (2002) FOXP2 is not a major susceptibility gene for autism or specific language impairment. Am J Hum Genet 70:1318-1327
34. Newcomer P, Hammill D (1988) Test of language development-2: primary. Pro-Ed, Austin, TX
35. Petek E, Windpassinger C, Vincent JB, Cheung J, Boright AP, Scherer SW, Kroisel PM, Wagner K (2001) Disruption of a novel gene (IMMP2L) by a breakpoint in 7q31 associated with Tourette syndrome. Am J Hum Genet 68:848-858
36. Philippe A, Martinez M, Guilloud-Bataille M, Gillberg C, Rastam M, Sponheim E, Coleman M, Zappella M, Aschauer H, Van Maldergem L, Penet C, Feingold J, Brice A, Leboyer M, van Malldergerme L (1999) Genome-wide scan for autism susceptibility genes. Hum Mol Genet 8:805-812 (erratum 8:1353)
37. Risch N, Merikangas K (1996) The future of generic studies of complex human diseases. Science 273:1516-1517
38. Schick JH, Kundtz AM, Tiwari HK, Tabylo HG, Freebairn LA, Shriberg LD, Lewis BA, Iyengar SK (2002) Evidence of linkage with chromosome 7q31 markers in sib pairs with speech but not language disorders. Paper presented at Joint Conference of the IX International Congress for the Study of Child Language and the Symposium on Research in Child Language Disorders, Madison, WI
39. Semel EM, Wiig EH, Secord W (1995) CELF3: clinical evaluation of language fundamentals. Harcourt Brace, San Antonio
40. Sham PC, Curtis D (1995) An extended transmission/disequilibrium test (TDT) for multi-allele marker loci. Ann Hum Genet 59:323-336
41. Shu W, Yang H, Zhang L, Lu MM, Morrisey EE (2001) Characterization of a new subfamily of winged-helix/forkhead (Fox) genes that are expressed in the lung and act as transcriptional repressors. J Biol Chem 276:27488-27497
42. The SLI Consortium (2002) A genomewide scan identifies two novel loci involved in specific language impairment. Am J Hum Genet 70:384-398
43. Tentler D, Brandberg G, Betancur C, Gillberg C, Anneren G, Orsmark C, Green ED, Carlsson B, Dahl N (2001) A balanced reciprocal translocation t(5;7)(q14;q32) associated with autistic disorder: molecular analysis of the chromosome 7 breakpoint. Am J Med Genet 105:729-736
44. Thomson G (1995a) Analysis of complex human genetic traits: an ordered-notation method and new tests for mode of inheritance. Am J Hum Genet 57:474-486
45. Thomson G (1995b) Mapping disease genes: family-based association studies. Am J Hum Genet 57:487-498
46. Tomblin JB (1989) Familial concentration of developmental language impairment. J Speech Hear Disord 54:287-295
47. Tomblin JB, Buckwalter PR (1998) Heritability of poor language achievement among twins. J Speech Lang Hear Res 41:188-199
48. Tomblin JB, Records NL, Buckwalter P, Zhang X, Smith E, O'Brien M (1997) Prevalence of specific language impairmerit in kindergarten children. J Speech Lang Hear Res 40: 1245-1260
49. Tomblin JB, Records NL, Zhang X (1996) A system for the diagnosis of specific language impairment in kindergarten children. J Speech Hear Res 39:1284-1294
50. van der Lely HK, Stollwerck L (1996) A grammatical specific language impairment in children: an autosomal dominant inheritance? Brain Lang 52:484-504
51. Vincent JB, Herbrick JA, Gurling HM, Bolton PF, Roberts W, Scherer SW (2000) Identification of a novel gene on chromosome 7q31 that is interrupted by a translocation breakpoint in an autistic individual. Am J Hum Genet 67:510-514
52. Wallace G, Hammill DD (1994) Comprehensive receptive and expressive vocabulary test. Pro-Ed, Austin, TX
53. Warburton P, Baird G, Chen W, Morris K, Jacobs BW, Hodgson S, Docherty Z (2000) Support for linkage of autism and specific language impairment to 7q3 from two chromosome rearrangements involving band 7q31. Am J Med Genet 96: 228-234
54. Wassink TH, Piven J, Vieland VJ, Huang J, Swiderski RE, Pietila J, Braun T, Beck G, Folstein SE, Haines JL, Sheffield VC (2001) Evidence supporting WNT2 as an autism susceptibility gene. Am J Med Genet 105:406-413
55. Wassink TH, Piven J, Vieland VJ, Pietila J, Goedken RJ, folstein SE, Sheffield VC (2002) Evaluation of FOXP2 as an autism susceptibility gene. Am J Med Genet 114:566-569
56. Wechsler D (1991) Wechsler Intelligence Scale for Children-III. The Psychological Corporation, San Antonio