Genome-wide analysis of genetic susceptibility to language impairment in an isolated Chilean population

European Journal of Human Genetics

Volumn 19, Issue 6, 2011, Pages 687-695

  Villanueva, Pia ^a,b   Newbury, Dianne F ^c   Jara, Lilian ^a   De Barbieri, Zulema ^a   Mirza, Ghazala ^c   Palamino, Hernán M ^b   Fernández, María Angélica ^a   Cazier, Jean Baptiste ^c   Monaco, Anthony P ^c   Palomino, Hernán ^a  

^a UNIVERSITY OF CHILE   (Chile)

^b UNIVERSITY OF CHILE   (Chile)

^c UNIVERSITY OF OXFORD   (United Kingdom)

Author keywords

language; linkage; Robinson Crusoe Island; Specific language impairment (SLI)

Indexed keywords

ARTICLE; CHILD; CHILE; CHROMOSOME 7Q; FEMALE; GENE LOCUS; GENE MAPPING; GENETIC ASSOCIATION; GENETIC LINKAGE; GENETIC SUSCEPTIBILITY; HAPLOTYPE; HETEROZYGOSITY LOSS; HOMOZYGOSITY; HUMAN; LANGUAGE DISABILITY; LINKAGE ANALYSIS; MAJOR CLINICAL STUDY; MALE; PRESCHOOL CHILD; PRIORITY JOURNAL; SCHOOL CHILD; SPECIFIC LANGUAGE IMPAIRMENT;

CHILD; CHILD, PRESCHOOL; CHILE; CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 7; FEMALE; FOUNDER EFFECT; GENETIC LINKAGE; GENETIC PREDISPOSITION TO DISEASE; GENOME, HUMAN; GENOME-WIDE ASSOCIATION STUDY; GENOTYPE; HUMANS; LANGUAGE DEVELOPMENT DISORDERS; LOSS OF HETEROZYGOSITY; MALE; MODELS, GENETIC; PEDIGREE; PHENOTYPE;

EID: 79956307286     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2010.251     Document Type: Article

References (37)

1. Law J, Boyle J, Harris F, Harkness A, Nye C: Prevalence and natural history of primary speech and language delay: findings from a systematic review of the literature. Int J Lang Commun Disord 2000; 35: 165-188. (Pubitemid 30209428)
2. Harel S, Greenstein Y, Kramer U et al: Clinical characteristics of children referred to a child development center for evaluation of speech, language, and communication disorders. Pediatr Neurol 1996; 15: 305-311. (Pubitemid 26418929)
3. Stromswold K: The heritability of language: a review and meta analysis of twin adoption and linkage studies. Language 2001; 77: 647-723. (Pubitemid 33614785)
4. Bishop DV: Genetic and environmental risks for specific language impairment in children. Philos Trans R Soc Lond B Biol Sci 2001; 356: 369-380. (Pubitemid 32305010)
5. SLIC: A genomewide scan identifies two novel loci involved in specific language impairment. Am J Hum Genet 2002; 70: 384-398.
6. SLIC: Highly significant linkage to the SLI1 locus in an expanded sample of individuals affected by specific language impairment. Am J Hum Genet 2004; 74: 1225-1238.
7. Bartlett CW, Flax JF, Logue MW et al: A major susceptibility locus for specific language impairment is located on 13q21. Am J Hum Genet 2002; 71: 45-55. (Pubitemid 34734706)
8. Newbury DF, Winchester L, Addis L et al: CMIP and ATP2C2 modulate phonological short-term memory in language impairment. Am J Hum Genet 2009; 85: 264-272.
9. Vernes SC, Newbury DF, Abrahams BS et al: A functional genetic link between distinct developmental language disorders. N Engl J Med 2008; 359: 2337-2345.
10. Sabatti C, Service SK, Hartikainen AL et al: Genome-wide association analysis of metabolic traits in a birth cohort from a founder population. Nat Genet 2009; 41: 35-46.
11. Gulcher J, Kong A, Stefansson K: The genealogic approach to human genetics of disease. Cancer J 2001; 7: 61-68.
12. Villanueva P, De Barbieri Z, Palomino HM, Palomino H: High prevalence of specific language impairment in Robinson Crusoe Island. A possible founder effect. Rev Med Chil 2008; 136: 186-192.
13. De Barbieri Z, Maggiolo L, Trastornos De la comunicación oral en niñ os que asisten a control De salud en un consultorio De atención primaria. Rev Chil Pediatr 1999; 70: 36-40.
14. Maggiolo M, Pavez M: Test para evaluar los procesos fonológicos De simplificación (TEPROSIF). Santiago: Escuela De Fonoaudioloǵa, Facultad De Medicina, Universidad De Chile, 2000.
15. Pavez M: Test exploratorio De Gramática española De A. Toronto. Aplicación en Chile, Santiago: Ediciones Universidad cató lica De Chile, 2003.
16. Villanueva P: Pauta De Examen en Habla y motricidad Orofacial. Santiago: Escuela De Fonoaudioloǵa, Facultad De Medicina, Universidad De Chile, 2000.
17. Tallal P, Ross R, Curtiss S: Familial aggregation in specific language impairment. J Speech Hear Disord 1989; 54: 167-173. (Pubitemid 19132375)
18. Benito-Cuadrado MM, Esteba-Castillo S, Bohm P, Cejudo-Bolivar J, Pena-Casanova J: Semantic verbal fluency of animals: a normative and predictive study in a Spanish population. J Clin Exp Neuropsychol 2002; 24: 1117-1122. (Pubitemid 36605539)
19. De Renzi E, Vignolo L: The Token Test: a sensitive tests to detect receptive disturbances in aphasics. Brain 1962; 85: 665-678.
20. Raven J, Raven J, VCourt J: Manual for Raven's Progressive Matrices and Vocabulary Scales. San Antonio, TX: Harcourt assessment, 2003.
21. Abecasis GR, Cherny SS, Cookson WO, Cardon LR: Merlin - rapid analysis of dense genetic maps using sparse gene flow trees. Nat Genet 2002; 30: 97-101.
22. Wigginton JE, Abecasis GR: PEDSTATS: descriptive statistics, graphics and quality assessment for gene mapping data. Bioinformatics 2005; 21: 3445-3447. (Pubitemid 41222458)
23. Abecasis GR, Cherny SS, Cookson WO, Cardon LR: GRR: graphical representation of relationship errors. Bioinformatics 2001; 17: 742-743. (Pubitemid 32851384)
24. Purcell S, Neale B, Todd-Brown K et al: PLINK: a tool set for whole-genome association and population-based linkage analyses. Am J Hum Genet 2007; 81: 559-575. (Pubitemid 47330214)
25. McQuillan R, Leutenegger AL, Abdel-Rahman R et al: Runs of homozygosity in European populations. Am J Hum Genet 2008; 83: 359-372.
26. Lander E, Kruglyak L: Genetic dissection of complex traits: guidelines for interpreting and reporting linkage results. Nat Genet 1995; 11: 241-247.
27. Barrett JC, Fry B, Maller J, Daly MJ: Haploview: analysis and visualization of LD and haplotype maps. Bioinformatics 2005; 21: 263-265. (Pubitemid 40202029)
28. Rajkovic A, Pangas SA, Ballow D, Suzumori N, Matzuk MM: NOBOX deficiency disrupts early folliculogenesis and oocyte-specific gene expression. Science 2004; 305: 1157-1159. (Pubitemid 39100329)
29. Langlais PJ, Zhang SX, Savage LM: Neuropathology of thiamine deficiency: an update on the comparative analysis of human disorders and experimental models. Metab Brain Dis 1996; 11: 19-37. (Pubitemid 26101010)
30. Friedmann N, Fattal I, Fattal-Valevski A: The effect of thiamine deficiency in infancy on the development of syntactic and lexical abilities. Procedia Social and Behavioural Sciences 2010; 6: 168-169.
31. IMGSAC: A full genome screen for autism with evidence for linkage to a region on chromosome 7q. Hum Mol Genet 1998; 7: 571-578.
32. Lai CS, Fisher SE, Hurst JA, Vargha-Khadem F, Monaco AP: A forkhead-domain gene is mutated in a severe speech and language disorder. Nature 2001; 413: 519-523. (Pubitemid 32938749)
33. Falcaro M, Pickles A, Newbury DF et al: Genetic and phenotypic effects of phonological short-term memory and grammatical morphology in specific language impairment. Genes Brain Behav 2008; 7: 393-402. (Pubitemid 351590927)
34. CLSA: An autosomal genomic screen for autism. Am J Med Genet 2001; 105: 609-615.
35. CLSA: Incorporating language phenotypes strengthens evidence of linkage to autism. Am J Med Genet 2001; 105: 539-547.
36. Boyles AL, Scott WK, Martin ER et al: Linkage disequilibrium inflates type I error rates in multipoint linkage analysis when parental genotypes are missing. Hum Hered 2005; 59: 220-227. (Pubitemid 41159816)
37. Freimer NB, Sandkuijl LA, Blower SM: Incorrect specification of marker allele frequencies: effects on linkage analysis. Am J Hum Genet 1993; 52: 1102-1110. (Pubitemid 23311351)