Genomewide scan identifies susceptibility locus for dyslexia on Xq27 in an extended Dutch family

Journal of Medical Genetics

Volumn 41, Issue 9, 2004, Pages 652-657

  De Kovel, C G F ^a   Hol, F A ^b   Heister, J G A M ^b   Willemen, J J H T ^b   Sandkuijl, L A ^c   Franke, B ^b   Padberg, G W ^b  

^a LEIDEN UNIVERSITY   (Netherlands)

^b RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^c LEIDEN UNIVERSITY MEDICAL CENTER   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

ADOLESCENT; ALLELE; ARTICLE; CHROMOSOME XQ; DYSLEXIA; FAMILY STUDY; FEMALE; GENE LOCUS; GENETIC LINKAGE; GENETIC MARKER; GENETIC RISK; GENETIC SUSCEPTIBILITY; GENOME ANALYSIS; HAPLOTYPE; HUMAN; LINKAGE ANALYSIS; MAJOR CLINICAL STUDY; MALE; PHENOTYPE; PRIORITY JOURNAL; READING; SEX DIFFERENCE;

ADOLESCENT; ADULT; AGED; ALLELES; CHROMOSOMES, HUMAN, X; DNA MUTATIONAL ANALYSIS; DYSLEXIA; FEMALE; GENES, DOMINANT; GENETIC DISEASES, X-LINKED; GENETIC PREDISPOSITION TO DISEASE; GENOME, HUMAN; HUMANS; LOD SCORE; MALE; MIDDLE AGED; NETHERLANDS; PEDIGREE; QUANTITATIVE TRAIT LOCI; QUESTIONNAIRES; READING; SEX CHARACTERISTICS; SIBLINGS;

EID: 4444356020     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: 10.1136/jmg.2003.012294     Document Type: Article

References (40)

1. Rabin M, Wen XL, Hepburn M, Lubs HA, Feldman E, Duara R. Suggestive linkage of developmental dyslexia to chromosome 1p34-p36. Lancet 1993;342:178.
2. Fagerheim T, Raeymaekers P, Tonnessen FE, Pedersen M, Tranebjaerg L, Lubs HA. A new gene (DYX3) for dyslexia is located on chromosome 2. J Med Genet 1999;36:664-9.
3. Petryshen TL, Kaplan BJ, Hughes ML, Tzenova J, Field LL. Supportive evidence for the DYX3 dyslexia susceptibility gene in Canadian families. J Med Genet 2002;39:125-6.
4. Nopola-Hemmi J, Myllyluoma B, Haltia T, Taipale M, Ollikainen V, Ahonen T, Voutilainen A, Kere J, Widen E. A dominant gene for developmental dyslexia on chromosome 3. J Med Genet 2001;38:658-64.
5. Cardon LR, Smith SD, Fulker DW, Kimberling WJ, Pennington BF, DeFries JC. Quantitative trait locus for reading disability on chromosome 6. Science 1994;266:276-9.
6. Grigorenko EL, Wood FB, Meyer MS, Pauls DL. Chromosome 6p influences on different dyslexia-related cognitive processes: further confirmation. Am J Hum Genet 2000;66:715-23.
7. Kaminen N, Hannula-Jouppi K, Kestila M, Lahermo P, Muller K, Kaaranen M, Myllyluoma B, Voutilainen A, Lyytinen H, Nopola-Hemmi J, Kere J. A genome scan for developmental dyslexia confirms linkage to chromosome 2p11 and suggests a new locus on 7q32. J Med Genet 2003;40:340-5.
8. Grigorenko EL, Wood FB, Meyer MS, Hart LA, Speed WC, Shuster A, Pauls DL. Susceptibility loci for distinct components of developmental dyslexia on chromosomes 6 and 15. Am J Hum Genet 1997;60:27-39.
9. Morris DW, Robinson L, Turic D, Duke M, Webb V, Milham C, Hopkin E, Pound K, Fernando S, Easton M, Hamshere M, Williams N, McGuffin P, Stevenson J, Krawczak M, Owen MJ, O'Donovan MC, Williams J. Family-based association mapping provides evidence for a gene for reading disability on chromosome 15q. Hum Mol Gen 2000;9:843-8.
10. Schulte-Körne G, Grimm T, Nothen MM, Muller-Myhsok B, Cichon S, Vogt IR, Propping P, Remschmidt H. Evidence for linkage of spelling disability to chromosome 15 [letter]. Am J Hum Genet 1998;63:279-82.
11. 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. Independent genome-wide scans identify a chromosome 18 quantitative-trait locus influencing dyslexia. Nat Genet 2002;30:86-91.
12. Schulte-Körne G. Annotation: Genetics of reading and spelling disorder. J Child Psychol Psychiatry 2001;42:985-97.
13. Fisher SE, DeFries JC. Developmental dyslexia: genetic dissection of a complex cognitive trait. Nat Rev Neurosci 2002;3:767-80.
14. Taipale M, Kaminen N, Nopola-Hemmi J, Haltia T, Myllyluoma B, Lyytinen H, Muller K, Kaaranen M, Lindsberg PJ, Hannula-Jouppi K, Kere J. A candidate gene for developmental dyslexia encodes a nuclear tetratricopeptide repeat domain protein dynamically regulated in brain. Proc Natl Acad Sci USA 2003;100:11553-8.
15. Blomert L. Stand van zaken indicatiestelling en behandeling van kinderen met dyslexie. In: Reij R, ed. Dyslexie; naar een vergoedingsregeling. Amstelveen: College voor Zorgverzekeringen, 2003:4-112.
16. Wijsman EM, Peterson D, Leutenegger AL, Thomson JB, Goddard KAB, Hsu L, Berninger VW, Raskind WH. Segregation analysis of phenotypic components of learning disabilities. I. Nonword memory and digit span. Am J Hum Genet 2000;67:631-46.
17. Pennington BF, Gilger JW, Pauls D, Smith SA, Smith SD, DeFries JC. Evidence for major gene transmission of developmental dyslexia. JAMA 1991;266:1527-34.
18. Raskind WH. Current understanding of the genetic basis of reading and spelling disability. Learn Disabil Q 2001;24:141-57.
19. James WH. The sex-ratio of dyslexic children and their sibs. Dev Med Child Neurol 1992;34:530-3.
20. Kuijpers C, van der Leij A, Been P, van Leeuwen T, ter Keurs M, Schreuder R, van den Bos K. Leesproblemen in de bovenbouw van het voortgezet onderwijs en de volwassenheid: normering van een aantal tests. Pedagogische Studiën 2003;241:272-87.
21. Brus BT. Voeten MJM. Een-minuuttest. Nijmegen: Berkhout, 1973.
22. Van den Bos KP, Lutje Spelberg HC, Scheepstra AJM, De Vries JR. De klepel, Vorm A en B. Een test voor de leesvaardigheid von pseudowoorden. Nijmegen: Berkhout, 1994.
23. Uterwijk J. WAIS-III Nederlandstalige Bewering. Technische Handleiding. Lisse: Swets and Zeitlinger, 2000.
24. Wilson AM, Lesaux NK. Persistence of phonological processing deficits in college students with dyslexia who have age-appropriate reading skills. J Learn Disabil 2001;34:394-400.
25. Miller SA, Dykes DD, Polesky HF. A simple salting procedure for extracting DNA from human nucleated cells. Nucleic Acids Res 1988;16:1215.
26. Biosystems PE. ABI prism linkage mapping sets; user's manual The Perkin-Elmer Corporation, 1999.
27. Van Camp G, Balemans W, Willems PJ. Linkage Designer and Linkage Reporter software for automated gene localization studies. Tech Tips Online 1997;1:T40013.
28. O'Connell JR, Weeks DE. PedCheck: A program for identification of genotype incompatibilities in linkage analysis. Am J Hum Genet 1998;63:259-66.
29. Lathrop GM, Lalouel J-M. Easy calculations of LOD scores and genetic risks on small computers. Am J Hum Genet 1984;36:460-5.
30. Lathrop GM, Lalouel J-M, White RL. Construction of human genetic linkage maps: likelihood calculations for multilocus analysis. Genet Epidemiol 1986;3:39-52.
31. Kong A, Cox NJ. Allele-sharing models: LOD scores and accurate linkage tests. Am J Hum Genet 1997;61:1179-88.
32. International Molecular Genetic Study of Autism Consortium. Further characterization of the autism susceptibility locus AUTS1 on chromosome 7q. Hum Mol Genet 2001;10:973-82.
33. Redolfi E, Pizzuti A, Di Bacco A, Susani L, Labella T, Affer M, Montagna C, Reinbold R, Mumm S, Vezzoni P, Zucchi I. Mapping of the MYCL2 processed gene to Xq22-23 and identification of an additional L MYC-related sequence in Xq27.2. FEBS Lett 1999;446:273-7.
34. Redolfi E, Montagna C, Mumm S, Affer M, Susani L, Reinbold R, Hol F, Vezzoni P, Cimino M, Zucchi I. Identification of CXorf1, a novel intronless gene in Xq27.3, expressed in human hippocampus. DNA Cell Biol 1998;17:1009-16.
35. Chomez P, De Backer O, Bertrand M, De Plaen E, Baon T, Lucas S. An overview of the MAGE gene family with the identification of all human members of the family. Cancer Res 2001;61:5544-51.
36. Strausberg R. Homo sapiens hypothetical protein FLJ25736 (FLJ25736), mRNA. Submitted to Genbank 2002.
37. Nguyen-Ba-Charvet KT, Chedotal A. Role of Slit proteins in the vertebrate brain. J Physiol Paris 2002;96:91-8.
38. Marin O, Plump AS, Flames N, Sanchez-Camacho C, Tessier-Lavigne M, Rubenstein JL. Directional guidance of interneuron migration to the cerebral cortex relies on subcortical Slit1/2-independent repulsion and cortical attraction. Development 2003;130:1889-901.
39. Bardoni B, Mandel JL. Advances in understanding of fragile X pathogenesis and FMRP function, and in identification of X linked mental retardation genes. Curr Opin Genet Dev 2002;12:284-93.
40. deVries BBA, Wiegers AM, Smits APT, Mohkamsing S, Duivenvoorden HJ, Fryns JP, Curfs LMG, Halley DJJ, Oostra BA, van den Ouweland AMW, Niermeijer MF. Mental status of females with an FMR1 gene full mutation. Am J Hum Genet 1996;58:1025-32.