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キーワード:
Adult; Amniocentesis; Basic Helix-Loop-Helix Transcription Factors/*genetics; Child; Chromosome Mapping; Chromosomes, Human, Pair 15/genetics; Chromosomes, Human, Pair 6/genetics; Cohort Studies; Cyclic Nucleotide Phosphodiesterases, Type 7/*genetics; Denmark; Dyslexia/*genetics; Female; *Genetic Association Studies; Heterozygote Detection; Humans; Karyotyping; Male; Nerve Tissue Proteins/*genetics; Nuclear Proteins/*genetics; Pedigree; Phenotype; Polymorphism, Single Nucleotide/genetics; Pregnancy; Translocation, Genetic/*genetics; Zinc Fingers/*genetics
要旨:
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the cytogenetic level) with either a known dyslexia linkage region--at 15q21 (DYX1), 2p13 (DYX3) and 1p36 (DYX8)--or an unpublished linkage region at 19q13.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.
