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and 1p36 (DYX8)—or an unpublished linkage region at 19q13.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.