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A Cohort of Balanced Reciprocal Translocations Associated with Dyslexia: Identification of Two Putative Candidate Genes at DYX1

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Abstract

Dyslexia is one of the most common neurodevelopmental disorders where likely many genes are involved in the pathogenesis. So far six candidate dyslexia genes have been proposed, and two of these were identified by rare chromosomal translocations in affected individuals. By systematic re-examination of all translocation carriers in Denmark, we have identified 16 different translocations associated with dyslexia. In four families, where the translocation co-segregated with the phenotype, one of the breakpoints concurred (at the cytogenetic level) with either a known dyslexia linkage region—at 15q21 (DYX1), 2p13 (DYX3) and 1p36 (DYX8)—or an unpublished linkage region at 19q13. As a first exploitation of this unique cohort, we identify three novel candidate dyslexia genes, ZNF280D and TCF12 at 15q21, and PDE7B at 6q23.3, by molecular mapping of the familial translocation with the 15q21 breakpoint.

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Acknowledgements

We are grateful to the patients and families for participation in this study. We thank Dr. Elena Grigorenko, Child Study Center, Department of Psychology, Yale University, New Haven, CT, for communication concerning new dyslexia linkage loci. We also thank Claus Hansen and Karen Friis Henriksen for help with gene expression analysis. Wilhelm Johannsen Centre for Functional Genome research is established by the Danish National Research Foundation who also financed this study by an International Talent Recruitment grant to RB.

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Authors and Affiliations

  1. Wilhelm Johannsen Centre for Functional Genome Research, Department of Cellular and Molecular Medicine, University of Copenhagen, Blegdamsvej 3, 2200, Copenhagen N, Denmark

    Roberta Buonincontri, Iben Bache, Asli Silahtaroglu & Niels Tommerup

  2. Department of Clinical Genetics, University Hospital of Copenhagen, Rigshospitalet, Denmark

    Iben Bache

  3. Department of Scandinavian Studies and Linguistics, University of Copenhagen, Copenhagen, Denmark

    Carsten Elbro & Anne-Mette Veber Nielsen

  4. Max-Planck-Institute for Molecular Genetics, Berlin, Germany

    Reinhard Ullmann

  5. Department of Infectious Diseases and Immunology, Faculty of Veterinary Medicine, Utrecht University, Utrecht, The Netherlands

    Ger Arkesteijn

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  1. Roberta Buonincontri
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  3. Asli Silahtaroglu
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Correspondence to Roberta Buonincontri.

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Buonincontri, R., Bache, I., Silahtaroglu, A. et al. A Cohort of Balanced Reciprocal Translocations Associated with Dyslexia: Identification of Two Putative Candidate Genes at DYX1. Behav Genet 41, 125–133 (2011). https://doi.org/10.1007/s10519-010-9389-2

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