Reading and Dyslexias

Shelley D Smith, University of Nebraska Medical Center, Omaha, Nebraska, USA
Karen E Deffenbacher, University of Nebraska Medical Center, Omaha, Nebraska, USA
Amy M Brower, Third Wave Technologies, Madison, Wisconsin, USA

Published online: July 2006

DOI: 10.1038/npg.els.0005144

Specific reading disability (dyslexia) is an unexplained difficulty in learning to read and spell despite adequate intelligence and opportunity and without demonstrable sensory or neurologic handicap. Twin and family studies have demonstrated a genetic component to the variation in reading ability, and gene localization studies have identified several candidate regions, with strongest support for a gene at 6p21.3.

Keywords: specific reading disability; linkage; association; dyslexia; quantitative trait

Figure 1. Maps of markers that have been associated with dyslexia. Only partial maps are presented, covering the regions and relevant markers that have been reported as showing significant or suggestive linkage. Maps are oriented with the p terminus (pter) to the left. The position of the markers in cM from pter is taken from Grigorenko et al. (2001) for chromosome 1 markers. For chromosome 6 markers, the order and relative distances were determined by analysis of the draft and finished sequence available from the Sanger Centre (http://www.sanger.ac.uk/HGP/Chr6/), and confirmed against the Marshfield map available on the website of the National Center for Biotechnology Information (http://www.ncbi.nlm.nih.gov/genome/guide/human/). The chromosome 15 map is adapted from Morris et al. (2001) and from the Marshfield map.
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 References
    Cardon LR, Smith SD, Fulker DW, et al. (1994) Quantitative trait locus for reading disability on chromosome 6. Science 266: 276–279.
    Cardon LR, Smith SD, Fulker DW, et al. (1995) Quantitative locus for reading disability: a correction. Science 268: 5217.
    Choi JJ, Hisama FM, Gruen JR, et al. (1998) Mutation screening of the human GABAB receptor gene in patients with juvenile myoclonic epilepsy and dyslexia. American Journal of Human Genetics 63A: 356.
    Deffenbacher KE, Hoover DM, Kenyon JB, et al. (2001) Mutation screening of the syngap gene in patients with dyslexia. American Journal of Human Genetics 69 (supplement): 538.
    De Fries JC and Alarcón M (1996) Genetics of specific reading disability. Mental Retardation and Developmental Disabilities Research Reviews 2: 39–47.
    De Fries JC and Fulker DW (1985) Multiple regression analysis of twin data. Behavior Genetics 15: 467–473.
    Fagerheim T, Raeymaekers P, Tønnessen FE, et al. (1999) A new gene (DYX3) for dyslexia is located on chromosome 2. Journal of Medical Genetics 36: 664–669.
    Fisher SE, Francks C, Marlow AJ, et al. (2002) Independent genome-wide scans identify a chromosome 18 quantitative-trait locus influencing dyslexia. Nature Genetics 30 (1): 86–91.
    Fisher SE, Marlow AJ, Lamb J, et al. (1999) A quantitative-trait locus on chromosome 6p influences different aspects of developmental dyslexia. American Journal of Human Genetics 64: 146–156.
    book Francks C, Fisher SE, Markov AJ, et al. (2002) "A genome-wide screen in families from the Colorado twin study of reading disability with evidence that a quantitative trait locus on chromosome 2p influences multiple measures of developmental dyslexia". Paper presented at the Tenth International Congress of Human Genetics.
    book Fulker DW, Cardon LR, De Fries JC, et al. (1991) Multiple regression of sib-pair data on reading to detect quantitative trait loci. Reading and Writing: An Interdisciplinary Journal 3: 299–313, reprinted in Reading Disabilities: Genetic and Neurological Influences, Pennington BF (ed.), pp. 111–125. Dordrecht: Kluwer Academic Publishers.
    Gayán J, Smith SD, Cherny SS, et al. (1999) Quantitative-trait locus for specific language and reading deficits on chromosome 6p. American Journal of Human Genetics 64: 157–164.
    Gilger JW, Borecki IB, De Fries JC and Pennington BF (1994) Commingling and segregation analysis of reading performance in families of normal reading probands. Behavior Genetics 24: 345–355.
    Grigorenko EL, Wood FB, Meyer MS, et al. (1997) Susceptibility loci for distinct components of developmental dyslexia on chromosomes 6 and 15. American Journal of Human Genetics 60: 27–39.
    Grigorenko EL, Wood FB, Meyer MS, et al. (2001) Linkage studies suggest a possible locus for developmental dyslexia on chromosome 1p. American Journal of Medical Genetics 105(1): 120–129.
    Habib M (2000) The neurological basis of developmental dyslexia: an overview and working hypothesis. Brain 12: 2373–2399.
    Morris DW, Robinson L, Turic D, et al. (2001) Family-based association mapping provides evidence for a gene for reading disability on chromosome 15q. Human Molecular Genetics 9(5): 843–848.
    Nopola-Hemmi J, Taipale M, Haltia T, et al. (2000) Two translocations of chromosome 15q associated with dyslexia. Journal of Medical Genetics 37: 771–775.
    Nopola-Hemmi J, Myllyluoma B, Haltia T, et al. (2001) A dominant gene for developmental dyslexia on chromosome 3. Journal of Medical Genetics 38: 658–664.
    Pennington BF, Gilger JW, Pauls DL, et al. (1991) Evidence for dominant transmission of developmental dyslexia. Journal of the American Medical Association 266: 1527–1534.
    Peterson D, Wijsman E, Goddard K, et al. (1999) Segregation analysis of phenotypic subtypes of dyslexia. American Journal of Human Genetics 65A: 393.
    Petryshen TL, Kaplan BJ, Hughes ML and Field LL (2000a) Evidence for the chromosome 2p15–16 dyslexia susceptibility locus (DYX3) in a large Canadian dataset. American Journal of Medical Genetics 96: 472.
    Petryshen TL, Kaplan BJ, Liu MF and Field L (2000b) Absence of significant linkage between phonological coding dyslexia and chromosome 6p23–21.3, as determined by use of quantitative-trait methods: confirmation of qualitative analysis. American Journal of Human Genetics 66: 708–714.
    Petryshen TL, Kaplan BJ, Fu Liu M, de French NS, et al. (2001) Evidence for a susceptibility locus on chromosome 6q influencing phonological coding dyslexia. American Journal of Medical Genetics 105: 507–517.
    Rabin M, Wen XL, Hepburn M, et al. (1993) Suggestive linkage of developmental dyslexia to chromosome 1p34–p36, letter. The Lancet 342: 178.
    Schulte-Körne G, Grimm T, Nöthen MM, et al. (1998) Evidence for linkage of spelling disability to chromosome 15. American Journal of Human Genetics 63: 279–282.
    book Smith SD, Kelley PM, Askew JW, et al. (2001) "Reading disability and chromosome 6p21.3: evaluation of MOG as a candidate gene". In: Gilger JW (ed.) Genetics, Neuropsychology and Learning Disorders. Special issue, Journal of Learning Disabilities. 34: 512–519.
    Smith SD, Kimberling WJ, Pennington BF and Lubs HA (1983) Specific reading disability: identification of an inherited form through linkage analysis. Science 219: 1345–1347.
    book Smith SD, Kimberling WJ, Pennington BF (1991) "Screening for multiple genes influencing dyslexia". Reading and Writing: An Interdisciplinary Journal 3: 285–298, reprinted in Reading Disabilities: Genetic and Neurological Influences, Pennington BF (ed.), pp. 97–110. Dordrecht: Kluwer Academic Publishers.
 Further Reading
    De Fries JC and Alarcón M (1996) Genetics of specific reading disability. Mental Retardation and Developmental Disabilities Research Reviews 2: 39–47.
    book De Fries JC and Gillis JJ (1993) "Genetics of reading disability". In: Plomin R and McClearn G (eds.) Nature, Nurture, and Psychology, pp. 121–145. Washington, DC: APA Press
    Eden G and Zeffiro TA (1998) Neural systems affected in developmental dyslexia revealed by functional neuroimaging. Neuron 21: 279–282.
    Fisher SE and De Fries JC (2002) Developmental dyslexia: genetic dissection of a complex cognitive trait. Nature Reviews Neuroscience 3: 767–780.
    Gayán J and Olson RK (1999) Reading disability: evidence for a genetic etiology. European Child and Adolescent Psychiatry 8 (supplement 3): 52–55.
    Grigorenko EL (2001) Developmental dyslexia: an update on genes, brains, and environments. Journal of Child Psychology and Psychiatry 42(1): 91–125.
    Livingstone MS, Rosen GD, Drislane FW and Galaburda AM (1991) Physiological and anatomical evidence for a magnocellular defect in developmental dyslexia. Proceedings of the National Academy of Sciences of the United States of America 88: 7943–7947.
    Pennington BF (1997) Using genetics to dissect cognition. American Journal of Human Genetics 60(1): 13–16.
    Pennington BF (1999) Toward an integrated understanding of dyslexia: genetic, neurological, and cognitive mechanisms. Developmental Psychopathology 11(3): 629–654.
    Rumsey JM, Horwitz B, Donohue BC, et al. (1999) A functional lesion in developmental dyslexia: left angular blood flow predicts severity. Brain and Language 70: 187–204.
    Shaywitz SE, Shaywitz BA, Pugh KR, et al. (1998) Functional disruption in the organization of the brain for reading in dyslexia. Proceedings of the National Academy of Sciences of the United States of America 95(5): 2636–2641.
    book Smith SD, Gilger JW and Pennington BF (2001) "Dyslexia and other language/learning disorders". In: Rimoin DL, Conner JM and Pyeritz R (eds.) Emery and Rimoin's Principles and Practice of Medical Genetics, 4th edn. New York, NY: Churchill Livingstone.

Related Sub-Topics:

General Neuroscience | Molecular Genetics of Common and Complex Disease | Genetics of Intelligence and Cognition
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Article Title: Reading and Dyslexias
 
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Smith, Shelley D, Deffenbacher, Karen E, and Brower, Amy M(Jul 2006) Reading and Dyslexias. In: eLS. John Wiley & Sons Ltd, Chichester. http://www.els.net [doi: 10.1038/npg.els.0005144]