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International Handbook of Mathematical Learning Difficulties pp 329–343Cite as

Genetics of Dyscalculia 1: In Search of Genes

Abstract

In this chapter, we review the genetic foundations of developmental dyscalculia. We begin by briefly reviewing the clinical epidemiology of dyscalculia. Next, we review evidence for genetic susceptibility from familial aggregation and heritability estimates. Evidence for genetic susceptibility is substantial but associated with some limitations. Familial aggregation studies do not distinguish genetic from environmental influences. As heritability does not identify specific genes, it applies only at the population, not at the individual level. Current molecular genetic methods are helping to identify specific genes implicated in dyscalculia. We discuss evidence from genome-wide association studies on dyscalculia and on its comorbidities, mainly dyslexia, autism, and specific language impairment. The number of such studies is small but growing. So far, some candidate genes have been identified, but none of them has yet been confirmed in independent studies. Developmental dyscalculia is a heterogeneous phenotype. Future advances depend, among other things, on improvements in phenotype characterization and identification of families with clear phenotypic segregation.

Keywords

  • Dyscalculia
  • Gene
  • GWAS
  • Heritability
  • Familial aggregation

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Authors and Affiliations

  1. Departamento de Biologia Geral, Instituto de Ciências Biológicas, Universidade Federal de Minas Gerais (UFMG), Belo Horizonte, Brazil

    Maria Raquel S. Carvalho

  2. Departamento de Psicologia, Faculdade de Filosofia e Ciências Humanas, Universidade Federal de Minas Gerais, Belo Horizonte, Brazil

    Vitor Geraldi Haase

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  1. Maria Raquel S. Carvalho
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  2. Vitor Geraldi Haase
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Correspondence to Maria Raquel S. Carvalho .

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Editors and Affiliations

  1. Faculty of Education Sciences, Department of Psychology, University of Duisburg-Essen, Essen, Germany

    Annemarie Fritz

  2. Faculty of Education, Centre for Education Practice Research, University of Johannesburg, Johannesburg, South Africa

    Annemarie Fritz

  3. Departamento de Psicologia, Faculdade de Filosofia e Ciências Humanas, Universidade Federal de Minas Gerais, Belo Horizonte, Brazil

    Vitor Geraldi Haase

  4. Niilo Mäki Institute, Jyväskylä, Finland

    Pekka Räsänen

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Carvalho, M.R.S., Haase, V.G. (2019). Genetics of Dyscalculia 1: In Search of Genes. In: Fritz, A., Haase, V.G., Räsänen, P. (eds) International Handbook of Mathematical Learning Difficulties. Springer, Cham. https://doi.org/10.1007/978-3-319-97148-3_21

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