A Cohort of Balanced Reciprocal Translocations Associated with Dyslexia: Identification of Two Putative Candidate Genes at DYX1
pmid: 20798984
A Cohort of Balanced Reciprocal Translocations Associated with Dyslexia: Identification of Two Putative Candidate Genes at DYX1
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the cytogenetic level) with either a known dyslexia linkage region--at 15q21 (DYX1), 2p13 (DYX3) and 1p36 (DYX8)--or an unpublished linkage region at 19q13.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.
- Utrecht University Netherlands
- University of Copenhagen Denmark
- University of Copenhagen Denmark
- Max Planck Society Germany
- Max Planck Institute for Molecular Genetics Germany
Adult, Male, Chromosomes, Human, Pair 15, Cyclic Nucleotide Phosphodiesterases, Type 7, Denmark, Genetic Carrier Screening, Chromosome Mapping, Nuclear Proteins, Nerve Tissue Proteins, Cohort Studies, Dyslexia, Cytoskeletal Proteins, Karyotyping, Amniocentesis, Basic Helix-Loop-Helix Transcription Factors, Humans, Chromosomes, Human, Pair 6, Female, Child, Genetic Association Studies
Adult, Male, Chromosomes, Human, Pair 15, Cyclic Nucleotide Phosphodiesterases, Type 7, Denmark, Genetic Carrier Screening, Chromosome Mapping, Nuclear Proteins, Nerve Tissue Proteins, Cohort Studies, Dyslexia, Cytoskeletal Proteins, Karyotyping, Amniocentesis, Basic Helix-Loop-Helix Transcription Factors, Humans, Chromosomes, Human, Pair 6, Female, Child, Genetic Association Studies
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